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<!--
|
||
UID=21827
|
||
ConceptID=C0042345
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Varicose disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21827</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.">C0042345</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>Varicose veins</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Phlebectasia (399989005); Venous ectasia (399989005); Venous varices (128060009); Varix (12856003); Varices (12856003); Varicose vein (12856003); Uneven venous ectasia (12856003); Varices (128060009); Varicosities (128060009); Varicose veins (128060009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002619">HP:0002619</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008638" target="_blank">MONDO:0008638</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/192200" target="_blank">192200</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_100">
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||
<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">Enlarged and tortuous veins. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_21827"><div><strong>Varicose disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21827</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.">C0042345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlarged and tortuous veins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21827">Feature record</a> | <a href="/medgen?term=%22Varicose%20disease%22%5BClinical%20Features%5D%20OR%2021827%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_21827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Varicose disease</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></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 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=21827" target="_blank" href="/omim/192200">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=21827" ref="ncbi_uid=21827">V</a></span></span><span class="TLline">Varicose disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/96114" ref="tree=MeSH" title="MedGen record for Cardiovascular finding">Cardiovascular finding</a></span><ul><li><span class="matched_ds">Varicose disease</span><ul><li><span class="TLline"><a href="/medgen/12048" ref="tree=MeSH" title="MedGen record for Stasis ulcer">Stasis ulcer</a></span></li><li><span class="TLline"><a href="/medgen/57613" ref="tree=MeSH" title="MedGen record for Varicose veins of lower extremity">Varicose veins of lower extremity</a></span><ul><li><span class="TLline"><a href="/medgen/12049" ref="tree=MeSH" title="MedGen record for Varicose Vein of Lower Extremities with Inflammation">Varicose Vein of Lower Extremities with Inflammation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341828" ref="tree=MeSH" title="MedGen record for Venous varicosities of celiac and mesenteric vessels">Venous varicosities of celiac and mesenteric vessels</a></span></li><li><span class="TLline"><a href="/medgen/510083" ref="tree=MeSH" title="MedGen record for Vulval varicose vein">Vulval varicose vein</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_21827"><div><strong>Varicose disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21827</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.">C0042345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlarged and tortuous veins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21827">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75566"><div><strong>Distichiasis-lymphedema syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75566</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:">C0265345</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82790"><div><strong>Ehlers-Danlos syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82790</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.">C0268338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82790">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332974"><div><strong>Chuvash polycythemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332974</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.">C1837915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326819"><div><strong>Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326819</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.">C1839129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326819">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338862"><div><strong>Distichiasis with congenital anomalies of the heart and peripheral vasculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338862</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.">C1852062</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400532"><div><strong>H syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400532</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.">C1864445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416522"><div><strong>CLAPO syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416522</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.">C2751313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416522">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414066"><div><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414066</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.">C2751630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462437"><div><strong>Aneurysm-osteoarthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462437</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.">C3151087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766676"><div><strong>Loeys-Dietz syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766676</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.">C3553762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908120"><div><strong>Lymphatic malformation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908120</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.">C4225184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934596"><div><strong>Lymphatic malformation 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934596</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.">C4310629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934596">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934682"><div><strong>Tall stature-intellectual disability-renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934682</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.">C4310715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934682">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634330"><div><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634330</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.">C4551768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634330">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</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.">C4693870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675672"><div><strong>Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675672</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.">C5193040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675672">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1794251"><div><strong>Loeys-Dietz syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794251</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.">C5562041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794251">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aneurysm-osteoarthritis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chuvash polycythemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CLAPO syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis with congenital anomalies of the heart and peripheral vasculature</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis-lymphedema syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">H syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature-intellectual disability-renal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326819" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Varicose disease</a></div></span></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/25205026">Targeted endovenous treatment of Giacomini vein insufficiency-associated varicose disease: considering the reflux patterns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atasoy MM,
|
||
Gümüş B,
|
||
Caymaz I,
|
||
Oğuzkurt L</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Radiol</span>
|
||
2014 Nov;20(6):481-6.
|
||
doi: 10.5152/dir.2014.14148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25205026" target="_blank">25205026</a><a href="/pmc/articles/PMC4463289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10193981">Varicose disease treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moniuszko M</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
1999 Mar;25(3):257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10193981" target="_blank">10193981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1776348">Primary varicose veins: hemodynamic principles of surgical care. The case for the ambulatory stab evulsion technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goren G</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
1991;20(4):365-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1776348" target="_blank">1776348</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22varicose%20disease%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 (3)</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/34472771">Carotid endarterectomy with saphenous vein patch angioplasty: a single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esposito A,
|
||
Menna D,
|
||
Baiano A,
|
||
Benedetto P,
|
||
DI Leo F,
|
||
Trani A,
|
||
Cappiello AP</span><br />
|
||
<span class="medgenPMjournal">Minerva Cardiol Angiol</span>
|
||
2023 Feb;71(1):120-125.
|
||
Epub 2021 Sep 2
|
||
doi: 10.23736/S2724-5683.21.05685-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34472771" target="_blank">34472771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26573978">The endovenous ASVAL method: principles and preliminary results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atasoy MM,
|
||
Oğuzkurt L</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Radiol</span>
|
||
2016 Jan-Feb;22(1):59-64.
|
||
doi: 10.5152/dir.2015.15161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26573978" target="_blank">26573978</a><a href="/pmc/articles/PMC4712900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18258724">Cryoperforator surgery: a new treatment of incompetent perforating veins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klem TM,
|
||
Wittens CH</span><br />
|
||
<span class="medgenPMjournal">Vasc Endovascular Surg</span>
|
||
2008 Jun-Jul;42(3):239-42.
|
||
Epub 2008 Feb 7
|
||
doi: 10.1177/1538574407312655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18258724" target="_blank">18258724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16184835">Histopathological changes and expression of adhesion molecules and laminin in varicose veins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aunapuu M,
|
||
Arend A</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
2005 Aug;34(3):170-5.
|
||
doi: 10.1024/0301-1526.34.3.170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16184835" target="_blank">16184835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8480913">Risk factors for varicose disease before and during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dindelli M,
|
||
Parazzini F,
|
||
Basellini A,
|
||
Rabaiotti E,
|
||
Corsi G,
|
||
Ferrari A</span><br />
|
||
<span class="medgenPMjournal">Angiology</span>
|
||
1993 May;44(5):361-7.
|
||
doi: 10.1177/000331979304400504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8480913" target="_blank">8480913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Varicose%20disease%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 (38)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39661877">Minimally invasive methods of surgical treatment of patients with varicose disease of the lower extremities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filip SS,
|
||
Slivka RM,
|
||
Shitev AI,
|
||
Kish PP</span><br />
|
||
<span class="medgenPMjournal">Wiad Lek</span>
|
||
2024;77(10):1877-1882.
|
||
doi: 10.36740/WLek/195129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39661877" target="_blank">39661877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27878794">Varicosities of the lower extremity, new approaches: cosmetic or therapeutic needs?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spinedi L,
|
||
Uthoff H,
|
||
Partovi S,
|
||
Staub D</span><br />
|
||
<span class="medgenPMjournal">Swiss Med Wkly</span>
|
||
2016;146:w14360.
|
||
Epub 2016 Nov 12
|
||
doi: 10.4414/smw.2016.14360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27878794" target="_blank">27878794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21424042">Is there a correlation between the CEAP score and the histopathological findings in varicose disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mironiuc A,
|
||
Palcău L,
|
||
Rogojan L,
|
||
Micula S,
|
||
Gherman C</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2011;52(1):117-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21424042" target="_blank">21424042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15232641">Effect of PPADS on P2X receptor-mediated responses of human blood vessels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziganshin AU,
|
||
Ziganshin BA,
|
||
Giniyatova LR,
|
||
Dzhordzhikiya RK</span><br />
|
||
<span class="medgenPMjournal">Bull Exp Biol Med</span>
|
||
2004 Mar;137(3):284-7.
|
||
doi: 10.1023/b:bebm.0000031571.45054.f0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15232641" target="_blank">15232641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8624665">Thrombotic complications of varicose veins. A literature review of the role of superficial venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guex JJ</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
1996 Apr;22(4):378-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8624665" target="_blank">8624665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Varicose%20disease%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37220130">A study protocol for comparing the treatment of varicose tributaries either concomitantly with or separately from endovenous laser ablation of the incompetent saphenous trunk (the FinnTrunk Study). A multicenter parallel-group randomized controlled study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viljamaa J,
|
||
Firoozi K,
|
||
Venermo M,
|
||
Pokela M,
|
||
Pihlaja T,
|
||
Halmesmäki K,
|
||
Hakovirta H</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285823.
|
||
Epub 2023 May 23
|
||
doi: 10.1371/journal.pone.0285823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37220130" target="_blank">37220130</a><a href="/pmc/articles/PMC10204998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34472771">Carotid endarterectomy with saphenous vein patch angioplasty: a single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esposito A,
|
||
Menna D,
|
||
Baiano A,
|
||
Benedetto P,
|
||
DI Leo F,
|
||
Trani A,
|
||
Cappiello AP</span><br />
|
||
<span class="medgenPMjournal">Minerva Cardiol Angiol</span>
|
||
2023 Feb;71(1):120-125.
|
||
Epub 2021 Sep 2
|
||
doi: 10.23736/S2724-5683.21.05685-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34472771" target="_blank">34472771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18258724">Cryoperforator surgery: a new treatment of incompetent perforating veins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klem TM,
|
||
Wittens CH</span><br />
|
||
<span class="medgenPMjournal">Vasc Endovascular Surg</span>
|
||
2008 Jun-Jul;42(3):239-42.
|
||
Epub 2008 Feb 7
|
||
doi: 10.1177/1538574407312655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18258724" target="_blank">18258724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16184835">Histopathological changes and expression of adhesion molecules and laminin in varicose veins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aunapuu M,
|
||
Arend A</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
2005 Aug;34(3):170-5.
|
||
doi: 10.1024/0301-1526.34.3.170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16184835" target="_blank">16184835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8624665">Thrombotic complications of varicose veins. A literature review of the role of superficial venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guex JJ</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
1996 Apr;22(4):378-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8624665" target="_blank">8624665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Varicose%20disease%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37622498">THE IMPORTANCE OF THE PROGNOSTIC SCORE FOR THE CHOICE OF CHIVA HEMODYNAMIC SURGERY AS A TREATMENT METHOD FOR VARICOSE VEINS OF THE LOWER EXTREMITIES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolosovych IV,
|
||
Korolova KO,
|
||
Teplyi VV,
|
||
Korolova ZV,
|
||
Sydorenko RA</span><br />
|
||
<span class="medgenPMjournal">Wiad Lek</span>
|
||
2023;76(7):1562-1568.
|
||
doi: 10.36740/WLek202307108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37622498" target="_blank">37622498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30701873">Gender features of comorbidity in patients with coronary artery disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sumin AN,
|
||
Korok EV,
|
||
Shcheglova AV,
|
||
Barbarash OL</span><br />
|
||
<span class="medgenPMjournal">Ter Arkh</span>
|
||
2018 Apr 19;90(4):42-49.
|
||
doi: 10.26442/terarkh201890442-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30701873" target="_blank">30701873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30701751">Cardiovascular disease and associated comorbid conditions as determinants of adverse perinatal outcomes in pregnancy - an analysis of the results of the register of pregnant BEREG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stryuk RI,
|
||
Burns CA,
|
||
Filippov MP,
|
||
Brytkova YV,
|
||
Borisov IV,
|
||
Barkova EL,
|
||
Gomova TA,
|
||
Kozina EA,
|
||
Nagirnyak OA</span><br />
|
||
<span class="medgenPMjournal">Ter Arkh</span>
|
||
2018 Feb 14;90(1):9-16.
|
||
doi: 10.26442/terarkh20189019-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30701751" target="_blank">30701751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619902">Risk factors of overactive bladder syndrome and its relation to sexual function in menopausal women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hakimi S,
|
||
Aminian E,
|
||
Alizadeh Charandabi SM,
|
||
Bastani P,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">Urologia</span>
|
||
2018 Feb;85(1):10-14.
|
||
doi: 10.1177/0391560317750484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619902" target="_blank">29619902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8624665">Thrombotic complications of varicose veins. A literature review of the role of superficial venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guex JJ</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
1996 Apr;22(4):378-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8624665" target="_blank">8624665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Varicose%20disease%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37652474">Assessing the Risk of Stroke in the Elderly in the Context of Long-COVID, Followed Through the Lens of Family Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moldovan AF,
|
||
Moga I,
|
||
Moga T,
|
||
Ghitea EC,
|
||
Babes K,
|
||
Ghitea TC</span><br />
|
||
<span class="medgenPMjournal">In Vivo</span>
|
||
2023 Sep-Oct;37(5):2284-2295.
|
||
doi: 10.21873/invivo.13331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37652474" target="_blank">37652474</a><a href="/pmc/articles/PMC10500484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37220130">A study protocol for comparing the treatment of varicose tributaries either concomitantly with or separately from endovenous laser ablation of the incompetent saphenous trunk (the FinnTrunk Study). A multicenter parallel-group randomized controlled study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viljamaa J,
|
||
Firoozi K,
|
||
Venermo M,
|
||
Pokela M,
|
||
Pihlaja T,
|
||
Halmesmäki K,
|
||
Hakovirta H</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285823.
|
||
Epub 2023 May 23
|
||
doi: 10.1371/journal.pone.0285823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37220130" target="_blank">37220130</a><a href="/pmc/articles/PMC10204998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26573978">The endovenous ASVAL method: principles and preliminary results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atasoy MM,
|
||
Oğuzkurt L</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Radiol</span>
|
||
2016 Jan-Feb;22(1):59-64.
|
||
doi: 10.5152/dir.2015.15161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26573978" target="_blank">26573978</a><a href="/pmc/articles/PMC4712900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21424042">Is there a correlation between the CEAP score and the histopathological findings in varicose disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mironiuc A,
|
||
Palcău L,
|
||
Rogojan L,
|
||
Micula S,
|
||
Gherman C</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2011;52(1):117-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21424042" target="_blank">21424042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16184835">Histopathological changes and expression of adhesion molecules and laminin in varicose veins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aunapuu M,
|
||
Arend A</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
2005 Aug;34(3):170-5.
|
||
doi: 10.1024/0301-1526.34.3.170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16184835" target="_blank">16184835</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Varicose%20disease%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 (26)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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