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<meta name="keywords" content="C0342881, disease or syndrome, familial homozygous hypercholesterolemia, familial hypercholesterolemia - homozygous, hofh, homozygous familial hypercholesterolemia, hypercholesterolemias, homozygous familial, 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="A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=575266
|
||
ConceptID=C0342881
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Homozygous familial hypercholesterolemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575266</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:">C0342881</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Familial hypercholesterolemia - homozygous</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial homozygous hypercholesterolemia (238078005); Familial hypercholesterolemia - homozygous (238078005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018328" target="_blank">MONDO:0018328</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=391665">ORPHA391665</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</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></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342881[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=575266">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=575266" ref="ncbi_uid=575266">V</a></span></span><span class="TLline">Homozygous familial hypercholesterolemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892402" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipid concentration">Abnormal circulating lipid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871179" ref="tree=MeSH" title="MedGen record for Abnormal circulating cholesterol concentration">Abnormal circulating cholesterol concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869193" ref="tree=MeSH" title="MedGen record for Abnormality of lipoprotein cholesterol concentration">Abnormality of lipoprotein cholesterol concentration</a></span><ul><li><span class="TLline"><a href="/medgen/9363" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia">Hyperlipoproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/5688" ref="tree=MeSH" title="MedGen record for Familial hypercholesterolemia">Familial hypercholesterolemia</a></span><ul><li><span class="matched_ds">Homozygous familial hypercholesterolemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/35499807">Dyslipidemia Management in Pregnancy: Why Is It not Covered in the Guidelines?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewek J,
|
||
Banach M</span><br />
|
||
<span class="medgenPMjournal">Curr Atheroscler Rep</span>
|
||
2022 Jul;24(7):547-556.
|
||
Epub 2022 Apr 30
|
||
doi: 10.1007/s11883-022-01030-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35499807" target="_blank">35499807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28437620">AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jellinger PS,
|
||
Handelsman Y,
|
||
Rosenblit PD,
|
||
Bloomgarden ZT,
|
||
Fonseca VA,
|
||
Garber AJ,
|
||
Grunberger G,
|
||
Guerin CK,
|
||
Bell DSH,
|
||
Mechanick JI,
|
||
Pessah-Pollack R,
|
||
Wyne K,
|
||
Smith D,
|
||
Brinton EA,
|
||
Fazio S,
|
||
Davidson M</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2017 Apr;23(Suppl 2):1-87.
|
||
doi: 10.4158/EP171764.APPGL.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28437620" target="_blank">28437620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24494590">Management of patients with homozygous familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziajka PE</span><br />
|
||
<span class="medgenPMjournal">Am J Manag Care</span>
|
||
2013 Nov;19(13 Suppl):s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24494590" target="_blank">24494590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22homozygous%20familial%20hypercholesterolemia%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 (85)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Familial-Hypercholesterolemia.pdf" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APOB, LDLR, PCSK9 Pathogenic Variants (Familial Hypercholesterolemia), 2019</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.csanz.edu.au/wp-content/uploads/2017/07/Familial-Hypercholesterolaemia_ratified_-25-Nov-2016.pdf" target="_blank">The Cardiac Society of Australia and New Zealand, Diagnosis and Management of Familial Hypercholesterolaemia – Position Statement</a></h3>
|
||
</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/37860863">Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegman A,
|
||
Greber-Platzer S,
|
||
Ali S,
|
||
Reijman MD,
|
||
Brinton EA,
|
||
Charng MJ,
|
||
Srinivasan S,
|
||
Baker-Smith C,
|
||
Baum S,
|
||
Brothers JA,
|
||
Hartz J,
|
||
Moriarty PM,
|
||
Mendell J,
|
||
Bihorel S,
|
||
Banerjee P,
|
||
George RT,
|
||
Hirshberg B,
|
||
Pordy R</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 30;149(5):343-353.
|
||
Epub 2023 Oct 20
|
||
doi: 10.1161/CIRCULATIONAHA.123.065529.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37860863" target="_blank">37860863</a><a href="/pmc/articles/PMC10814999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37850379">Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raal F,
|
||
Durst R,
|
||
Bi R,
|
||
Talloczy Z,
|
||
Maheux P,
|
||
Lesogor A,
|
||
Kastelein JJP;
|
||
ORION-5 Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 30;149(5):354-362.
|
||
Epub 2023 Oct 18
|
||
doi: 10.1161/CIRCULATIONAHA.122.063460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37850379" target="_blank">37850379</a><a href="/pmc/articles/PMC10815002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33882801">Lipid Disorders in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liberis A,
|
||
Petousis S,
|
||
Tsikouras P</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2021;27(36):3804-3807.
|
||
doi: 10.2174/1381612827666210421103245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33882801" target="_blank">33882801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32977124">Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertolini S,
|
||
Calandra S,
|
||
Arca M,
|
||
Averna M,
|
||
Catapano AL,
|
||
Tarugi P;
|
||
Italian Study Group of Homozygous Familial Hypercholesterolemia</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2020 Nov;312:72-78.
|
||
Epub 2020 Sep 9
|
||
doi: 10.1016/j.atherosclerosis.2020.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32977124" target="_blank">32977124</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32813947">Evinacumab for Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raal FJ,
|
||
Rosenson RS,
|
||
Reeskamp LF,
|
||
Hovingh GK,
|
||
Kastelein JJP,
|
||
Rubba P,
|
||
Ali S,
|
||
Banerjee P,
|
||
Chan KC,
|
||
Gipe DA,
|
||
Khilla N,
|
||
Pordy R,
|
||
Weinreich DM,
|
||
Yancopoulos GD,
|
||
Zhang Y,
|
||
Gaudet D;
|
||
ELIPSE HoFH Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Aug 20;383(8):711-720.
|
||
doi: 10.1056/NEJMoa2004215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32813947" target="_blank">32813947</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%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 (290)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37860863">Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegman A,
|
||
Greber-Platzer S,
|
||
Ali S,
|
||
Reijman MD,
|
||
Brinton EA,
|
||
Charng MJ,
|
||
Srinivasan S,
|
||
Baker-Smith C,
|
||
Baum S,
|
||
Brothers JA,
|
||
Hartz J,
|
||
Moriarty PM,
|
||
Mendell J,
|
||
Bihorel S,
|
||
Banerjee P,
|
||
George RT,
|
||
Hirshberg B,
|
||
Pordy R</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 30;149(5):343-353.
|
||
Epub 2023 Oct 20
|
||
doi: 10.1161/CIRCULATIONAHA.123.065529.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37860863" target="_blank">37860863</a><a href="/pmc/articles/PMC10814999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37130090">2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuchel M,
|
||
Raal FJ,
|
||
Hegele RA,
|
||
Al-Rasadi K,
|
||
Arca M,
|
||
Averna M,
|
||
Bruckert E,
|
||
Freiberger T,
|
||
Gaudet D,
|
||
Harada-Shiba M,
|
||
Hudgins LC,
|
||
Kayikcioglu M,
|
||
Masana L,
|
||
Parhofer KG,
|
||
Roeters van Lennep JE,
|
||
Santos RD,
|
||
Stroes ESG,
|
||
Watts GF,
|
||
Wiegman A,
|
||
Stock JK,
|
||
Tokgözoğlu LS,
|
||
Catapano AL,
|
||
Ray KK</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Jul 1;44(25):2277-2291.
|
||
doi: 10.1093/eurheartj/ehad197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37130090" target="_blank">37130090</a><a href="/pmc/articles/PMC10314327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33867421">Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nohara A,
|
||
Tada H,
|
||
Ogura M,
|
||
Okazaki S,
|
||
Ono K,
|
||
Shimano H,
|
||
Daida H,
|
||
Dobashi K,
|
||
Hayashi T,
|
||
Hori M,
|
||
Matsuki K,
|
||
Minamino T,
|
||
Yokoyama S,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Jul 1;28(7):665-678.
|
||
Epub 2021 Apr 18
|
||
doi: 10.5551/jat.RV17050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33867421" target="_blank">33867421</a><a href="/pmc/articles/PMC8265428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32977124">Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertolini S,
|
||
Calandra S,
|
||
Arca M,
|
||
Averna M,
|
||
Catapano AL,
|
||
Tarugi P;
|
||
Italian Study Group of Homozygous Familial Hypercholesterolemia</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2020 Nov;312:72-78.
|
||
Epub 2020 Sep 9
|
||
doi: 10.1016/j.atherosclerosis.2020.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32977124" target="_blank">32977124</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24494590">Management of patients with homozygous familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziajka PE</span><br />
|
||
<span class="medgenPMjournal">Am J Manag Care</span>
|
||
2013 Nov;19(13 Suppl):s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24494590" target="_blank">24494590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%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 (216)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37850379">Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raal F,
|
||
Durst R,
|
||
Bi R,
|
||
Talloczy Z,
|
||
Maheux P,
|
||
Lesogor A,
|
||
Kastelein JJP;
|
||
ORION-5 Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 30;149(5):354-362.
|
||
Epub 2023 Oct 18
|
||
doi: 10.1161/CIRCULATIONAHA.122.063460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37850379" target="_blank">37850379</a><a href="/pmc/articles/PMC10815002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37130090">2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuchel M,
|
||
Raal FJ,
|
||
Hegele RA,
|
||
Al-Rasadi K,
|
||
Arca M,
|
||
Averna M,
|
||
Bruckert E,
|
||
Freiberger T,
|
||
Gaudet D,
|
||
Harada-Shiba M,
|
||
Hudgins LC,
|
||
Kayikcioglu M,
|
||
Masana L,
|
||
Parhofer KG,
|
||
Roeters van Lennep JE,
|
||
Santos RD,
|
||
Stroes ESG,
|
||
Watts GF,
|
||
Wiegman A,
|
||
Stock JK,
|
||
Tokgözoğlu LS,
|
||
Catapano AL,
|
||
Ray KK</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Jul 1;44(25):2277-2291.
|
||
doi: 10.1093/eurheartj/ehad197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37130090" target="_blank">37130090</a><a href="/pmc/articles/PMC10314327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36881759">Chemistry, structure and function of approved oligonucleotide therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Egli M,
|
||
Manoharan M</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
2023 Apr 11;51(6):2529-2573.
|
||
doi: 10.1093/nar/gkad067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36881759" target="_blank">36881759</a><a href="/pmc/articles/PMC10085713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33976097">Evinacumab (Evkeeza) for homozygous familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
|
||
2021 May 3;63(1623):66-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33976097" target="_blank">33976097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32813947">Evinacumab for Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raal FJ,
|
||
Rosenson RS,
|
||
Reeskamp LF,
|
||
Hovingh GK,
|
||
Kastelein JJP,
|
||
Rubba P,
|
||
Ali S,
|
||
Banerjee P,
|
||
Chan KC,
|
||
Gipe DA,
|
||
Khilla N,
|
||
Pordy R,
|
||
Weinreich DM,
|
||
Yancopoulos GD,
|
||
Zhang Y,
|
||
Gaudet D;
|
||
ELIPSE HoFH Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Aug 20;383(8):711-720.
|
||
doi: 10.1056/NEJMoa2004215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32813947" target="_blank">32813947</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%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 (321)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210074">Sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada H,
|
||
Kojima N,
|
||
Takamura M,
|
||
Kawashiri MA</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2022;110:145-169.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1016/bs.acc.2022.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210074" target="_blank">36210074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35101175">Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tromp TR,
|
||
Hartgers ML,
|
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Hovingh GK,
|
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Vallejo-Vaz AJ,
|
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Ray KK,
|
||
Soran H,
|
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Freiberger T,
|
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Bertolini S,
|
||
Harada-Shiba M,
|
||
Blom DJ,
|
||
Raal FJ,
|
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Cuchel M;
|
||
Homozygous Familial Hypercholesterolaemia International Clinical Collaborators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Feb 19;399(10326):719-728.
|
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Epub 2022 Jan 28
|
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doi: 10.1016/S0140-6736(21)02001-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35101175" target="_blank">35101175</a><a href="/pmc/articles/PMC10544712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34297352">Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Taranto MD,
|
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Giacobbe C,
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Palma D,
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Iannuzzo G,
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Gentile M,
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Calcaterra I,
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Guardamagna O,
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Auricchio R,
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Di Minno MND,
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Fortunato G</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
|
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2021 Nov;100(5):529-541.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1111/cge.14036.
|
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<span class="bold">PMID: </span><a href="/pubmed/34297352" target="_blank">34297352</a><a href="/pmc/articles/PMC9291778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33867421">Homozygous Familial Hypercholesterolemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nohara A,
|
||
Tada H,
|
||
Ogura M,
|
||
Okazaki S,
|
||
Ono K,
|
||
Shimano H,
|
||
Daida H,
|
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Dobashi K,
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Hayashi T,
|
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Hori M,
|
||
Matsuki K,
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Minamino T,
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Yokoyama S,
|
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Harada-Shiba M</span><br />
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<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Jul 1;28(7):665-678.
|
||
Epub 2021 Apr 18
|
||
doi: 10.5551/jat.RV17050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33867421" target="_blank">33867421</a><a href="/pmc/articles/PMC8265428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24494590">Management of patients with homozygous familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziajka PE</span><br />
|
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<span class="medgenPMjournal">Am J Manag Care</span>
|
||
2013 Nov;19(13 Suppl):s.
|
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<span class="bold">PMID: </span><a href="/pubmed/24494590" target="_blank">24494590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%22%20AND%20Prognosis%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 (109)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38315470">Alirocumab in Pediatric Patients With Heterozygous Familial Hypercholesterolemia: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos RD,
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Wiegman A,
|
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Caprio S,
|
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Cariou B,
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Averna M,
|
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Poulouin Y,
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Scemama M,
|
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Manvelian G,
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Garon G,
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Daniels S</span><br />
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<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2024 Mar 1;178(3):283-293.
|
||
doi: 10.1001/jamapediatrics.2023.6477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38315470" target="_blank">38315470</a><a href="/pmc/articles/PMC10845038" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37850379">Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raal F,
|
||
Durst R,
|
||
Bi R,
|
||
Talloczy Z,
|
||
Maheux P,
|
||
Lesogor A,
|
||
Kastelein JJP;
|
||
ORION-5 Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 30;149(5):354-362.
|
||
Epub 2023 Oct 18
|
||
doi: 10.1161/CIRCULATIONAHA.122.063460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37850379" target="_blank">37850379</a><a href="/pmc/articles/PMC10815002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34297352">Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Taranto MD,
|
||
Giacobbe C,
|
||
Palma D,
|
||
Iannuzzo G,
|
||
Gentile M,
|
||
Calcaterra I,
|
||
Guardamagna O,
|
||
Auricchio R,
|
||
Di Minno MND,
|
||
Fortunato G</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Nov;100(5):529-541.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1111/cge.14036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34297352" target="_blank">34297352</a><a href="/pmc/articles/PMC9291778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33882801">Lipid Disorders in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liberis A,
|
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Petousis S,
|
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Tsikouras P</span><br />
|
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<span class="medgenPMjournal">Curr Pharm Des</span>
|
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2021;27(36):3804-3807.
|
||
doi: 10.2174/1381612827666210421103245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33882801" target="_blank">33882801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33867421">Homozygous Familial Hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nohara A,
|
||
Tada H,
|
||
Ogura M,
|
||
Okazaki S,
|
||
Ono K,
|
||
Shimano H,
|
||
Daida H,
|
||
Dobashi K,
|
||
Hayashi T,
|
||
Hori M,
|
||
Matsuki K,
|
||
Minamino T,
|
||
Yokoyama S,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Jul 1;28(7):665-678.
|
||
Epub 2021 Apr 18
|
||
doi: 10.5551/jat.RV17050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33867421" target="_blank">33867421</a><a href="/pmc/articles/PMC8265428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%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 (143)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38446086">Efficacy of Inclisiran in Patients Having Familial Hypercholesterolemia: Heterozygous Compared to Homozygous Trait, a Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rai R,
|
||
Devi P,
|
||
Kumar K,
|
||
Naeem K,
|
||
Kumar H,
|
||
Kumari K,
|
||
Kumar A,
|
||
Kumar A,
|
||
Muhammad A,
|
||
Khan MS,
|
||
Qadir G,
|
||
Ali S,
|
||
Maheshwari M,
|
||
Jawwad M</span><br />
|
||
<span class="medgenPMjournal">Crit Pathw Cardiol</span>
|
||
2024 Jun 1;23(2):73-80.
|
||
Epub 2024 Mar 5
|
||
doi: 10.1097/HPC.0000000000000353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38446086" target="_blank">38446086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35776569">Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bélanger AM,
|
||
Akioyamen LE,
|
||
Ruel I,
|
||
Hales L,
|
||
Genest J</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2022 Sep 7;43(34):3227-3239.
|
||
doi: 10.1093/eurheartj/ehac339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35776569" target="_blank">35776569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35027327">Health-related quality of life in homozygous familial hypercholesterolemia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alothman L,
|
||
Bélanger AM,
|
||
Ruel I,
|
||
Brunham LR,
|
||
Hales L,
|
||
Genest J,
|
||
Akioyamen LE</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Jan-Feb;16(1):52-65.
|
||
Epub 2021 Dec 6
|
||
doi: 10.1016/j.jacl.2021.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35027327" target="_blank">35027327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34957506">Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kramer AI,
|
||
Akioyamen LE,
|
||
Lee S,
|
||
Bélanger A,
|
||
Ruel I,
|
||
Hales L,
|
||
Genest J,
|
||
Brunham LR</span><br />
|
||
<span class="medgenPMjournal">Eur J Prev Cardiol</span>
|
||
2022 May 5;29(5):817-828.
|
||
doi: 10.1093/eurjpc/zwab224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34957506" target="_blank">34957506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27777316">The panorama of familial hypercholesterolemia in Latin America: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta R,
|
||
Zubirán R,
|
||
Martagón AJ,
|
||
Vazquez-Cárdenas A,
|
||
Segura-Kato Y,
|
||
Tusié-Luna MT,
|
||
Aguilar-Salinas CA</span><br />
|
||
<span class="medgenPMjournal">J Lipid Res</span>
|
||
2016 Dec;57(12):2115-2129.
|
||
Epub 2016 Oct 24
|
||
doi: 10.1194/jlr.R072231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27777316" target="_blank">27777316</a><a href="/pmc/articles/PMC5321217" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Homozygous%20familial%20hypercholesterolemia%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0342881%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0342881%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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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=(%22homozygous%20familial%20hypercholesterolemia%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Homozygous%20familial%20hypercholesterolemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Familial-Hypercholesterolemia.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APOB, LDLR, PCSK9 Pathogenic Variants (Familial Hypercholesterolemia), 2019</div></li><li><a target="_blank" href="https://www.csanz.edu.au/wp-content/uploads/2017/07/Familial-Hypercholesterolaemia_ratified_-25-Nov-2016.pdf">CSANZ, 2016</a><div>The Cardiac Society of Australia and New Zealand, Diagnosis and Management of Familial Hypercholesterolaemia – Position Statement</div></li></ul></div>
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