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<meta name="keywords" content="C0023817, burger grutz syndrome, burger-grutz syndrome, burger-grutz syndromes, chylomicronemia, familial, chylomicronemias, familial, deficiencies, familial lpl, deficiencies, lipase d, deficiencies, lipd, deficiencies, lipoprotein lipase, deficiency, familial lpl, deficiency, lipase d, deficiency, lipd, deficiency, lipoprotein lipase, disease or syndrome, endogenous hypertriglyceridaemia, endogenous hypertriglyceridemia, essential familial hyperlipemia, essential familial hyperlipemias, familial chylomicronemia, familial chylomicronemias, familial essential hyperlipemia, familial fat-induced hypertriglyceridemia, familial hyperchylomicronemia, familial hyperchylomicronemias, familial hyperlipemia, essential, familial hyperlipemias, essential, familial hyperlipo-proteinemia type 1, familial hyperlipoproteinemia type 1, familial hyperlipoproteinemia type i, familial hyperlipoproteinemia, type i, familial lipoprotein lipase deficiency, familial lipoprotein lipase deficiency (disorder) [ambiguous], familial lipoprotein lipase deficiency with type i phenotype, familial lpl deficiencies, familial lpl deficiency, familial type i hyperlipoproteinemia, fredrickson type 1 hyperlipoproteinemia, fredrickson type i hyperlipoproteinemia, fredrickson type i lipaemia, hepatosplenomegalic lipoidosis, high density lipoprotein cholesterol level qtl 11, hypercholesterinaemic xanthomatosis, hypercholesterinemic xanthomatosis, hyperchylomicro-nemia familial, hyperchylomicronemia, hyperchylomicronemia, familial, hyperchylomicronemias, familial, hyperlipemia essential familial, hyperlipemia idiopathic burger-grutz type, hyperlipemia, essential familial, hyperlipemia, idiopathic, burger-grutz type, hyperlipemias, essential familial, hyperlipoproteinemia type 1, hyperlipoproteinemia type 1a, hyperlipoproteinemia type i, hyperlipoproteinemia type ia, hyperlipoproteinemia type ias, hyperlipoproteinemia type is, hyperlipoproteinemia, type 1a, hyperlipoproteinemia, type i, hyperlipoproteinemia, type ia, hyperlipoproteinemias, type i, hyperlipoproteinemias, type ia, lipase d deficiencies, lipase d deficiency, lipase deficiencies, lipoprotein, lipd deficiencies, lipd deficiency, lipoprotein lipase deficiencies, lipoprotein lipase deficiency, lipoprotein lipase deficiency, familial, lpl, lpl deficiencies, familial, lpl deficiency, lpl deficiency, familial, mixed hyperglyceridemia, primary hyperchylomicronemia, syndrome, burger-grutz, syndromes, burger-grutz, type i hyperlipoproteinemia, type i hyperlipoproteinemias, type ia hyperlipoproteinemia, type ia hyperlipoproteinemias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to =20 g/day." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=7352
|
||
ConceptID=C0023817
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperlipoproteinemia, type I</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0023817</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Familial chylomicronemia; Familial hyperlipo-proteinemia type 1; Familial Lipoprotein Lipase Deficiency; Hyperchylomicro-nemia familial; Hyperlipemia essential familial; Hyperlipemia idiopathic Burger-Grutz type; Hyperlipoproteinemia type 1; HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; LIPOPROTEIN LIPASE DEFICIENCY; LPL DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial lipoprotein lipase deficiency with type I phenotype (403827000); Familial type I hyperlipoproteinemia (403827000); Familial lipoprotein lipase deficiency (275598004); Familial hyperlipoproteinemia, type I (275598004); Fredrickson type 1 hyperlipoproteinemia (275598004); Hyperchylomicronemia (267435002); Primary hyperchylomicronemia (267435002); Familial hyperchylomicronemia (267435002); Burger-Grutz syndrome (267435002); Hepatosplenomegalic lipoidosis (275598004); Hyperlipoproteinemia, type I (275598004); Endogenous hypertriglyceridemia (275598004); Hypercholesterinemic xanthomatosis (275598004); Familial fat-induced hypertriglyceridemia (275598004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="LPL - ID: 4023 - NCBI Gene" href="/gene/4023" class="medgenPMinfo">LPL</a> (8p21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009387" target="_blank">MONDO:0009387</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/238600" target="_blank">238600</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309015">ORPHA309015</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1308" target="_blank">Familial Lipoprotein Lipase Deficiency</a></div><div>Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to ≤20 g/day. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1308#lpl.Summary" target="NBK1308">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Diagnosis" target="NBK1308">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Clinical_Characteristics" target="NBK1308">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Genetically_Related_Allelic_Disorder" target="NBK1308">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Differential_Diagnosis" target="NBK1308">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Management" target="NBK1308">Management</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Genetic_Counseling" target="NBK1308">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Resources" target="NBK1308">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Molecular_Genetics" target="NBK1308">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.References" target="NBK1308">References</a> | <a class="medgenPMinfo" href="/books/NBK1308#lpl.Chapter_Notes" target="NBK1308">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
John R Burnett | Amanda J Hooper | Robert A Hegele <a href="/books/NBK1308" target="NBK1308" title="NCBI Bookshelf: Familial Lipoprotein Lipase Deficiency">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.<br /><br />People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The first symptom of this condition is usually abdominal pain, which can vary from mild to severe. The abdominal pain is often due to inflammation of the pancreas (pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening.<br /><br />Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate.<br /><br />Approximately half of individuals with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but individual xanthomas can cluster together to form larger patches. They are generally not painful unless exposed to repeated friction or abrasion. Eruptive xanthomas begin to appear when fat intake increases and levels rise; the deposits disappear when fat intake slows and levels decrease.<br /><br />The blood of people with familial lipoprotein lipase deficiency can have a milky appearance due to its high fat content. When fat levels get very high in people with this condition, fats can accumulate in blood vessels in the tissue that lines the back of the eye (the retina). The fat buildup gives this tissue a pale pink appearance when examined (lipemia retinalis). This fat accumulation does not affect vision and will disappear once fats from the diet are reduced and levels in the body decrease.<br /><br />In people with familial lipoprotein lipase deficiency, increased fat levels can also cause neurological features, such as depression, memory loss, and mild intellectual decline (dementia). These problems are remedied when dietary fat levels normalize. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency">https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_814352"><div><strong>Episodic abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3808022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intermittent form of abdominal pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814352">Feature record</a> | <a href="/medgen?term=%22Episodic%20abdominal%20pain%22%5BClinical%20Features%5D%20OR%20814352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867292"><div><strong>Precocious atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867292</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867292">Feature record</a> | <a href="/medgen?term=%22Precocious%20atherosclerosis%22%5BClinical%20Features%5D%20OR%20867292%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7872"><div><strong>Acute pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7872</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A acute form of pancreatitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7872">Feature record</a> | <a href="/medgen?term=%22Acute%20pancreatitis%22%5BClinical%20Features%5D%20OR%207872%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5687"><div><strong>Hypercholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5687">Feature record</a> | <a href="/medgen?term=%22Hypercholesterolemia%22%5BClinical%20Features%5D%20OR%205687%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5692"><div><strong>Hyperlipidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5692</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated lipid concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5692">Feature record</a> | <a href="/medgen?term=%22Hyperlipidemia%22%5BClinical%20Features%5D%20OR%205692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1377499"><div><strong>Lactescent serum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377499</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1096710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1377499">Feature record</a> | <a href="/medgen?term=%22Lactescent%20serum%22%5BClinical%20Features%5D%20OR%201377499%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853340"><div><strong>Increased circulating chylomicron concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853340</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1535978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853340">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20chylomicron%20concentration%22%5BClinical%20Features%5D%20OR%20853340%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66366"><div><strong>Eruptive xanthomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66366">Feature record</a> | <a href="/medgen?term=%22Eruptive%20xanthomas%22%5BClinical%20Features%5D%20OR%2066366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137918"><div><strong>Lipemia retinalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137918</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0339477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137918">Feature record</a> | <a href="/medgen?term=%22Lipemia%20retinalis%22%5BClinical%20Features%5D%20OR%20137918%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipidemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating chylomicron concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1377499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactescent serum</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious atherosclerosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipemia retinalis</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute pancreatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eruptive xanthomas</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_814352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic abdominal pain</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1274228[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=697577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/697577" ref="tree=GTR&ncbi_uid=697577&link_uid=697577" title="View MedGen record for 'Chylomicronemia syndrome'">Chylomicronemia syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5442313[DISCUI]&test_type=Clinical" ref="ncbi_uid=1778100">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1778100" ref="tree=GTR&ncbi_uid=1778100&link_uid=1778100" title="View MedGen record for 'Familial chylomicronemia syndrome'">Familial chylomicronemia syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348391" target="_blank" href="/omim/118830">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/348391" ref="tree=GTR&ncbi_uid=348391&link_uid=348391" title="View MedGen record for 'Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase'">Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720779[DISCUI]&test_type=Clinical" ref="ncbi_uid=328375">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=328375" target="_blank" href="/omim/207750">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=328375" ref="ncbi_uid=328375">V</a></span></span><span class="TLline"><a href="/medgen/328375" ref="tree=GTR&ncbi_uid=328375&link_uid=328375" title="View MedGen record for 'Familial apolipoprotein C-II deficiency'">Familial apolipoprotein C-II deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014767[DISCUI]&test_type=Clinical" ref="ncbi_uid=863204">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863204" target="_blank" href="/omim/612757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863204" ref="ncbi_uid=863204">V</a></span></span><span class="TLline"><a href="/medgen/863204" ref="tree=GTR&ncbi_uid=863204&link_uid=863204" title="View MedGen record for 'Hyperlipoproteinemia, type 1D'">Hyperlipoproteinemia, type 1D</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023817[DISCUI]&test_type=Clinical" ref="ncbi_uid=7352">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0023817[DISCUI]&test_type=Research" ref="ncbi_uid=7352">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=7352" target="_blank" href="/omim/238600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1308/" ref="ncbi_uid=7352">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=7352" ref="ncbi_uid=7352">V</a></span></span><span class="TLline">Hyperlipoproteinemia, type I</span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/697577" ref="tree=MeSH" title="MedGen record for Chylomicronemia syndrome">Chylomicronemia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1778100" ref="tree=MeSH" title="MedGen record for Familial chylomicronemia syndrome">Familial chylomicronemia syndrome</a></span><ul><li><span class="matched_ds">Hyperlipoproteinemia, type I</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21336&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hyperlipoproteinemia, type I</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22129523">Diagnosis and management of type I and type V hyperlipoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotoda T,
|
||
Shirai K,
|
||
Ohta T,
|
||
Kobayashi J,
|
||
Yokoyama S,
|
||
Oikawa S,
|
||
Bujo H,
|
||
Ishibashi S,
|
||
Arai H,
|
||
Yamashita S,
|
||
Harada-Shiba M,
|
||
Eto M,
|
||
Hayashi T,
|
||
Sone H,
|
||
Suzuki H,
|
||
Yamada N;
|
||
Research Committee for Primary Hyperlipidemia, Research on Measures against Intractable Diseases by the Ministry of Health, Labour and Welfare in Japan</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2012;19(1):1-12.
|
||
Epub 2011 Dec 1
|
||
doi: 10.5551/jat.10702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22129523" target="_blank">22129523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1110299">Case report: diagnosis and management of type I hyperlipoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ireton CL,
|
||
Davidson AG,
|
||
Applegarth DA,
|
||
Reilander MA,
|
||
Israels S</span><br />
|
||
<span class="medgenPMjournal">J Am Diet Assoc</span>
|
||
1975 Jan;66(1):42-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1110299" target="_blank">1110299</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperlipoproteinemia%2C%20type%20i%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38587247">Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stroes ESG,
|
||
Alexander VJ,
|
||
Karwatowska-Prokopczuk E,
|
||
Hegele RA,
|
||
Arca M,
|
||
Ballantyne CM,
|
||
Soran H,
|
||
Prohaska TA,
|
||
Xia S,
|
||
Ginsberg HN,
|
||
Witztum JL,
|
||
Tsimikas S;
|
||
Balance Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 May 16;390(19):1781-1792.
|
||
Epub 2024 Apr 7
|
||
doi: 10.1056/NEJMoa2400201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38587247" target="_blank">38587247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37994661">Multifactorial chylomicronemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chait A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2024 Apr 1;31(2):78-83.
|
||
Epub 2023 Nov 23
|
||
doi: 10.1097/MED.0000000000000846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994661" target="_blank">37994661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35710321">Hypertriglyceridaemia: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierzbicki AS,
|
||
Kim EJ,
|
||
Esan O,
|
||
Ramachandran R</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2022 Dec;75(12):798-806.
|
||
Epub 2022 Jun 16
|
||
doi: 10.1136/jclinpath-2021-207719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710321" target="_blank">35710321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33193106">A Comprehensive Update on the Chylomicronemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg RB,
|
||
Chait A</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:593931.
|
||
Epub 2020 Oct 23
|
||
doi: 10.3389/fendo.2020.593931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33193106" target="_blank">33193106</a><a href="/pmc/articles/PMC7644836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31390500">Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witztum JL,
|
||
Gaudet D,
|
||
Freedman SD,
|
||
Alexander VJ,
|
||
Digenio A,
|
||
Williams KR,
|
||
Yang Q,
|
||
Hughes SG,
|
||
Geary RS,
|
||
Arca M,
|
||
Stroes ESG,
|
||
Bergeron J,
|
||
Soran H,
|
||
Civeira F,
|
||
Hemphill L,
|
||
Tsimikas S,
|
||
Blom DJ,
|
||
O'Dea L,
|
||
Bruckert E</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Aug 8;381(6):531-542.
|
||
doi: 10.1056/NEJMoa1715944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31390500" target="_blank">31390500</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperlipoproteinemia%2C%20type%20I%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (146)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36641373">The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berberich AJ,
|
||
Hegele RA</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2023 May;37(3):101719.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.beem.2022.101719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36641373" target="_blank">36641373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35710321">Hypertriglyceridaemia: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierzbicki AS,
|
||
Kim EJ,
|
||
Esan O,
|
||
Ramachandran R</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2022 Dec;75(12):798-806.
|
||
Epub 2022 Jun 16
|
||
doi: 10.1136/jclinpath-2021-207719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710321" target="_blank">35710321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30183397">Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falko JM</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2018 Aug;24(8):756-763.
|
||
doi: 10.4158/EP-2018-0157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30183397" target="_blank">30183397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29980054">Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moulin P,
|
||
Dufour R,
|
||
Averna M,
|
||
Arca M,
|
||
Cefalù AB,
|
||
Noto D,
|
||
D'Erasmo L,
|
||
Di Costanzo A,
|
||
Marçais C,
|
||
Alvarez-Sala Walther LA,
|
||
Banach M,
|
||
Borén J,
|
||
Cramb R,
|
||
Gouni-Berthold I,
|
||
Hughes E,
|
||
Johnson C,
|
||
Pintó X,
|
||
Reiner Ž,
|
||
van Lennep JR,
|
||
Soran H,
|
||
Stefanutti C,
|
||
Stroes E,
|
||
Bruckert E</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2018 Aug;275:265-272.
|
||
Epub 2018 Jun 18
|
||
doi: 10.1016/j.atherosclerosis.2018.06.814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29980054" target="_blank">29980054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1557997">Chylomicronemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chait A,
|
||
Brunzell JD</span><br />
|
||
<span class="medgenPMjournal">Adv Intern Med</span>
|
||
1992;37:249-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1557997" target="_blank">1557997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperlipoproteinemia%2C%20type%20I%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (176)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37994661">Multifactorial chylomicronemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chait A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2024 Apr 1;31(2):78-83.
|
||
Epub 2023 Nov 23
|
||
doi: 10.1097/MED.0000000000000846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994661" target="_blank">37994661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35710321">Hypertriglyceridaemia: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierzbicki AS,
|
||
Kim EJ,
|
||
Esan O,
|
||
Ramachandran R</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2022 Dec;75(12):798-806.
|
||
Epub 2022 Jun 16
|
||
doi: 10.1136/jclinpath-2021-207719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710321" target="_blank">35710321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31390500">Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witztum JL,
|
||
Gaudet D,
|
||
Freedman SD,
|
||
Alexander VJ,
|
||
Digenio A,
|
||
Williams KR,
|
||
Yang Q,
|
||
Hughes SG,
|
||
Geary RS,
|
||
Arca M,
|
||
Stroes ESG,
|
||
Bergeron J,
|
||
Soran H,
|
||
Civeira F,
|
||
Hemphill L,
|
||
Tsimikas S,
|
||
Blom DJ,
|
||
O'Dea L,
|
||
Bruckert E</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Aug 8;381(6):531-542.
|
||
doi: 10.1056/NEJMoa1715944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31390500" target="_blank">31390500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31301033">Volanesorsen: First Global Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik J,
|
||
Duggan S</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2019 Aug;79(12):1349-1354.
|
||
doi: 10.1007/s40265-019-01168-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31301033" target="_blank">31301033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21846156">Lomitapide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Am J Cardiovasc Drugs</span>
|
||
2011 Oct 1;11(5):347-52.
|
||
doi: 10.2165/11533560-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21846156" target="_blank">21846156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperlipoproteinemia%2C%20type%20I%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (108)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39225259">Plozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watts GF,
|
||
Rosenson RS,
|
||
Hegele RA,
|
||
Goldberg IJ,
|
||
Gallo A,
|
||
Mertens A,
|
||
Baass A,
|
||
Zhou R,
|
||
Muhsin M,
|
||
Hellawell J,
|
||
Leeper NJ,
|
||
Gaudet D;
|
||
PALISADE Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2025 Jan 9;392(2):127-137.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1056/NEJMoa2409368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39225259" target="_blank">39225259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39672668">Familial chylomicronemia: New perspectives.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Blanco Echevarría A,
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<div class="nl"><a target="_blank" href="/pubmed/34920815">Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Santos RD,
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<div class="nl"><a target="_blank" href="/pubmed/29980054">Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moulin P,
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van Lennep JR,
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<div class="nl"><a target="_blank" href="/pubmed/1557997">Chylomicronemia syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chait A,
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<div class="nl"><a target="_blank" href="/pubmed/36641373">The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berberich AJ,
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Hegele RA</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
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2023 May;37(3):101719.
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Epub 2022 Nov 26
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<span class="bold">PMID: </span><a href="/pubmed/36641373" target="_blank">36641373</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35227434">Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mszar R,
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Webb GB,
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Kulkarni VT,
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Ahmad Z,
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Soffer D</span><br />
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<span class="medgenPMjournal">Med Clin North Am</span>
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2022 Mar;106(2):325-348.
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Epub 2022 Feb 10
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<span class="bold">PMID: </span><a href="/pubmed/35227434" target="_blank">35227434</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32793115">Genetics of Hypertriglyceridemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dron JS,
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2020;11:455.
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Epub 2020 Jul 24
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doi: 10.3389/fendo.2020.00455.
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<div class="nl"><a target="_blank" href="/pubmed/29980054">Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moulin P,
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Dufour R,
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Averna M,
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Arca M,
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Cefalù AB,
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Noto D,
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D'Erasmo L,
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Di Costanzo A,
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Marçais C,
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Alvarez-Sala Walther LA,
|
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Banach M,
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Borén J,
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Cramb R,
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Gouni-Berthold I,
|
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Hughes E,
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Johnson C,
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Pintó X,
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Reiner Ž,
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van Lennep JR,
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Soran H,
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Stefanutti C,
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Stroes E,
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Bruckert E</span><br />
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<span class="medgenPMjournal">Atherosclerosis</span>
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2018 Aug;275:265-272.
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Epub 2018 Jun 18
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doi: 10.1016/j.atherosclerosis.2018.06.814.
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<span class="bold">PMID: </span><a href="/pubmed/29980054" target="_blank">29980054</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/2010533">Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ameis D,
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Kobayashi J,
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Davis RC,
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Ben-Zeev O,
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Malloy MJ,
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Kane JP,
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Lee G,
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Wong H,
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Havel RJ,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperlipoproteinemia%2C%20type%20I%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (91)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38911039">Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ain Q,
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Cevc M,
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Marusic T,
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Sikonja J,
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Sadiq F,
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Sustar U,
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Mlinaric M,
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Kovac J,
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Batool H,
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Khan MI,
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Trebusak Podkrajsek K,
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Bizjan BJ,
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Battelino T,
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Fras Z,
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Ajmal M,
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Groselj U</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2024;15:1387419.
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Epub 2024 Jun 7
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doi: 10.3389/fendo.2024.1387419.
|
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<span class="bold">PMID: </span><a href="/pubmed/38911039" target="_blank">38911039</a><a href="/pmc/articles/PMC11190153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33475504">THE PREVALENCE OF PROBABLE FAMILIAL CHYLOMICRONEMIA SYNDROME IN A SOUTHERN CALIFORNIA POPULATION.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tripathi M,
|
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Wong A,
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Solomon V,
|
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Yassine HN</span><br />
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<span class="medgenPMjournal">Endocr Pract</span>
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2021 Jan;27(1):71-76.
|
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Epub 2020 Nov 18
|
||
doi: 10.4158/EP-2020-0135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33475504" target="_blank">33475504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24129166">Gene therapy as a new treatment option for inherited monogenic diseases.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boudes PF</span><br />
|
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<span class="medgenPMjournal">Eur J Intern Med</span>
|
||
2014 Jan;25(1):31-6.
|
||
Epub 2013 Oct 12
|
||
doi: 10.1016/j.ejim.2013.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24129166" target="_blank">24129166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperlipoproteinemia%2C%20type%20I%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&test_type=Research" target="_blank">Research (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023817%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023817%5bDISCUI%5d" target="_blank">See all (51)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=238600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=309015" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperlipoproteinemia,%20type%20I" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperlipoproteinemia%2C%20type%20i%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609708" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4023[geneid]" target="_blank">View LPL variations in ClinVar</a></li><li><a href="/nuccore/210032137" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=238600" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
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||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hyperlipoproteinemia+type+1/3574" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperlipoproteinemia_type_i" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperlipoproteinemia,%20type%20I" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/12241/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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||
<li>
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<a href="/pubmed/20301485" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
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<a href="/pubmed/clinical?term=Hyperlipoproteinemia,%20type%20I" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
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<li>
|
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<a href="/pubmed?term=Hyperlipoproteinemia,%20type%20I%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=7352" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=7352" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=7352" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5346a68b6b5afc79f48b">Hyperlipoproteinemia, type I</a>
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<div class="ralinkpop offscreen_noflow">Hyperlipoproteinemia, type I<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb534584f3725e593d7111">C0023817[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5344f4a390645e4106a3">Hyperlipidemia due to hepatic triglyceride lipase deficiency</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5344b15b832ebc0c2078">C3151466[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(55)</span></a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5341b15b832ebc0c1239">C3151466[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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