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<meta name="keywords" content="C2584620, disease or syndrome, hereditary hypercoagulable disorder, hereditary thrombophilia, inherited thrombophilia, primary thrombophilia, rare hereditary thrombophilia, thrombophilia, hereditary, 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="An instance of thrombophilia that is inherited." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=391721
ConceptID=C2584620
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary thrombophilia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>391721</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)&#10;Click for more information.">C2584620</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>Inherited thrombophilia</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Hereditary thrombophilia (439698008); Hereditary hypercoagulable disorder (439698008); Primary thrombophilia (439698008)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0100240" target="_blank">MONDO:0100240</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS188050" target="_blank">PS188050</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&amp;Expert=217454">ORPHA217454</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">An instance of thrombophilia that is inherited. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0398623[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98306">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&amp;from_uid=98306" ref="ncbi_uid=98306">V</a></span></span><span class="TLline"><a href="/medgen/98306" ref="tree=GTR&amp;ncbi_uid=98306&amp;link_uid=98306" title="View MedGen record for 'Thrombophilia'">Thrombophilia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2584620[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=391721">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hereditary thrombophilia</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/98306" ref="tree=MeSH" title="MedGen record for Thrombophilia">Thrombophilia</a></span><ul><li><span class="matched_ds">Hereditary thrombophilia</span><ul><li><span class="TLline"><a href="/medgen/75781" ref="tree=MeSH" title="MedGen record for Hereditary antithrombin deficiency">Hereditary antithrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/416465" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency">Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/671121" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital protein C deficiency">Hereditary thrombophilia due to congenital protein C deficiency</a></span></li><li><span class="TLline"><a href="/medgen/748876" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital protein S deficiency">Hereditary thrombophilia due to congenital protein S deficiency</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_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/27281301">Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bauer KA,
Nguyen-Cao TM,
Spears JB</span><br />
<span class="medgenPMjournal">Ann Pharmacother</span>
2016 Sep;50(9):758-67.
Epub 2016 Jun 8
doi: 10.1177/1060028016651276.
<span class="bold">PMID: </span><a href="/pubmed/27281301" target="_blank">27281301</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26780744">Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens SM,
Woller SC,
Bauer KA,
Kasthuri R,
Cushman M,
Streiff M,
Lim W,
Douketis JD</span><br />
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
2016 Jan;41(1):154-64.
doi: 10.1007/s11239-015-1316-1.
<span class="bold">PMID: </span><a href="/pubmed/26780744" target="_blank">26780744</a><a href="/pmc/articles/PMC4715840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12871277">Management of thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bauer KA</span><br />
<span class="medgenPMjournal">J Thromb Haemost</span>
2003 Jul;1(7):1429-34.
doi: 10.1046/j.1538-7836.2003.00274.x.
<span class="bold">PMID: </span><a href="/pubmed/12871277" target="_blank">12871277</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20thrombophilia%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 (33)</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.nice.org.uk/guidance/ng158" target="_blank">UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023</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/34956081">Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morimont L,
Haguet H,
Dogné JM,
Gaspard U,
Douxfils J</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:769187.
Epub 2021 Dec 9
doi: 10.3389/fendo.2021.769187.
<span class="bold">PMID: </span><a href="/pubmed/34956081" target="_blank">34956081</a><a href="/pmc/articles/PMC8697849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31577252">Hereditary thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dautaj A,
Krasi G,
Bushati V,
Precone V,
Gheza M,
Fioretti F,
Sartori M,
Costantini A,
Benedetti S,
Bertelli M</span><br />
<span class="medgenPMjournal">Acta Biomed</span>
2019 Sep 30;90(10-S):44-46.
doi: 10.23750/abm.v90i10-S.8758.
<span class="bold">PMID: </span><a href="/pubmed/31577252" target="_blank">31577252</a><a href="/pmc/articles/PMC7233636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30773075">Thrombophilia, risk factors and prevention.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campello E,
Spiezia L,
Adamo A,
Simioni P</span><br />
<span class="medgenPMjournal">Expert Rev Hematol</span>
2019 Mar;12(3):147-158.
Epub 2019 Feb 26
doi: 10.1080/17474086.2019.1583555.
<span class="bold">PMID: </span><a href="/pubmed/30773075" target="_blank">30773075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26780744">Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens SM,
Woller SC,
Bauer KA,
Kasthuri R,
Cushman M,
Streiff M,
Lim W,
Douketis JD</span><br />
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
2016 Jan;41(1):154-64.
doi: 10.1007/s11239-015-1316-1.
<span class="bold">PMID: </span><a href="/pubmed/26780744" target="_blank">26780744</a><a href="/pmc/articles/PMC4715840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12871277">Management of thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bauer KA</span><br />
<span class="medgenPMjournal">J Thromb Haemost</span>
2003 Jul;1(7):1429-34.
doi: 10.1046/j.1538-7836.2003.00274.x.
<span class="bold">PMID: </span><a href="/pubmed/12871277" target="_blank">12871277</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (284)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35963552">Impact of hereditary thrombophilia on cancer-associated thrombosis, tumour susceptibility and progression: A review of existing evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tavares V,
Neto BV,
Vilas-Boas MI,
Pereira D,
Medeiros R</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta Rev Cancer</span>
2022 Sep;1877(5):188778.
Epub 2022 Aug 10
doi: 10.1016/j.bbcan.2022.188778.
<span class="bold">PMID: </span><a href="/pubmed/35963552" target="_blank">35963552</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31577252">Hereditary thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dautaj A,
Krasi G,
Bushati V,
Precone V,
Gheza M,
Fioretti F,
Sartori M,
Costantini A,
Benedetti S,
Bertelli M</span><br />
<span class="medgenPMjournal">Acta Biomed</span>
2019 Sep 30;90(10-S):44-46.
doi: 10.23750/abm.v90i10-S.8758.
<span class="bold">PMID: </span><a href="/pubmed/31577252" target="_blank">31577252</a><a href="/pmc/articles/PMC7233636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26780744">Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens SM,
Woller SC,
Bauer KA,
Kasthuri R,
Cushman M,
Streiff M,
Lim W,
Douketis JD</span><br />
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
2016 Jan;41(1):154-64.
doi: 10.1007/s11239-015-1316-1.
<span class="bold">PMID: </span><a href="/pubmed/26780744" target="_blank">26780744</a><a href="/pmc/articles/PMC4715840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19228602">Venous thromboembolism: risk factors for recurrence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
Martinez I,
Emmerich J</span><br />
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
2009 Mar;29(3):298-310.
doi: 10.1161/ATVBAHA.108.182428.
<span class="bold">PMID: </span><a href="/pubmed/19228602" target="_blank">19228602</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9438374">Factor V.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosing J,
Tans G</span><br />
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
1997 Oct;29(10):1123-6.
doi: 10.1016/s1357-2725(97)00040-x.
<span class="bold">PMID: </span><a href="/pubmed/9438374" target="_blank">9438374</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (155)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36323276">Venous Thromboembolism Issues in Women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Linnemann B,
Rott H,
Zotz R,
Hart C</span><br />
<span class="medgenPMjournal">Hamostaseologie</span>
2022 Oct;42(5):290-299.
Epub 2022 Nov 2
doi: 10.1055/a-1919-9558.
<span class="bold">PMID: </span><a href="/pubmed/36323276" target="_blank">36323276</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34956081">Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morimont L,
Haguet H,
Dogné JM,
Gaspard U,
Douxfils J</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:769187.
Epub 2021 Dec 9
doi: 10.3389/fendo.2021.769187.
<span class="bold">PMID: </span><a href="/pubmed/34956081" target="_blank">34956081</a><a href="/pmc/articles/PMC8697849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33575779">Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
Chen Y,
Ye C,
Xing D,
Wu R,
Li F,
Chen L,
Wang T</span><br />
<span class="medgenPMjournal">Hum Reprod</span>
2021 Apr 20;36(5):1213-1229.
doi: 10.1093/humrep/deab010.
<span class="bold">PMID: </span><a href="/pubmed/33575779" target="_blank">33575779</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27121914">Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Vlijmen EF,
Wiewel-Verschueren S,
Monster TB,
Meijer K</span><br />
<span class="medgenPMjournal">J Thromb Haemost</span>
2016 Jul;14(7):1393-403.
Epub 2016 Jun 16
doi: 10.1111/jth.13349.
<span class="bold">PMID: </span><a href="/pubmed/27121914" target="_blank">27121914</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26492443">Factor V Leiden.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Cott EM,
Khor B,
Zehnder JL</span><br />
<span class="medgenPMjournal">Am J Hematol</span>
2016 Jan;91(1):46-9.
Epub 2015 Nov 17
doi: 10.1002/ajh.24222.
<span class="bold">PMID: </span><a href="/pubmed/26492443" target="_blank">26492443</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (125)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38327150">Investigating the Impact on Long-Term Outcomes and the Necessity of Hereditary Thrombophilia Screening in Presumed or Perinatal Arterial Ischemic Stroke.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bektaş Ö,
Göktaş ÖA,
Atasay B,
Teber S</span><br />
<span class="medgenPMjournal">Clin Appl Thromb Hemost</span>
2024 Jan-Dec;30:10760296241231944.
doi: 10.1177/10760296241231944.
<span class="bold">PMID: </span><a href="/pubmed/38327150" target="_blank">38327150</a><a href="/pmc/articles/PMC10851766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34956081">Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morimont L,
Haguet H,
Dogné JM,
Gaspard U,
Douxfils J</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:769187.
Epub 2021 Dec 9
doi: 10.3389/fendo.2021.769187.
<span class="bold">PMID: </span><a href="/pubmed/34956081" target="_blank">34956081</a><a href="/pmc/articles/PMC8697849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29074563">Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Croles FN,
Nasserinejad K,
Duvekot JJ,
Kruip MJ,
Meijer K,
Leebeek FW</span><br />
<span class="medgenPMjournal">BMJ</span>
2017 Oct 26;359:j4452.
doi: 10.1136/bmj.j4452.
<span class="bold">PMID: </span><a href="/pubmed/29074563" target="_blank">29074563</a><a href="/pmc/articles/PMC5657463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19228602">Venous thromboembolism: risk factors for recurrence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
Martinez I,
Emmerich J</span><br />
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
2009 Mar;29(3):298-310.
doi: 10.1161/ATVBAHA.108.182428.
<span class="bold">PMID: </span><a href="/pubmed/19228602" target="_blank">19228602</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16810613">Risk factors for thrombosis and bleeding and their influence on therapeutic decisions in patients with essential thrombocythemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Griesshammer M</span><br />
<span class="medgenPMjournal">Semin Thromb Hemost</span>
2006 Jun;32(4 Pt 2):372-80.
doi: 10.1055/s-2006-942758.
<span class="bold">PMID: </span><a href="/pubmed/16810613" target="_blank">16810613</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34956081">Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morimont L,
Haguet H,
Dogné JM,
Gaspard U,
Douxfils J</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:769187.
Epub 2021 Dec 9
doi: 10.3389/fendo.2021.769187.
<span class="bold">PMID: </span><a href="/pubmed/34956081" target="_blank">34956081</a><a href="/pmc/articles/PMC8697849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33575779">Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
Chen Y,
Ye C,
Xing D,
Wu R,
Li F,
Chen L,
Wang T</span><br />
<span class="medgenPMjournal">Hum Reprod</span>
2021 Apr 20;36(5):1213-1229.
doi: 10.1093/humrep/deab010.
<span class="bold">PMID: </span><a href="/pubmed/33575779" target="_blank">33575779</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33371515">Abdominal Wall Endometriosis: Two Case Reports and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Doroftei B,
Armeanu T,
Maftei R,
Ilie OD,
Dabuleanu AM,
Condac C</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2020 Dec 21;56(12)
doi: 10.3390/medicina56120727.
<span class="bold">PMID: </span><a href="/pubmed/33371515" target="_blank">33371515</a><a href="/pmc/articles/PMC7767517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29074563">Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Croles FN,
Nasserinejad K,
Duvekot JJ,
Kruip MJ,
Meijer K,
Leebeek FW</span><br />
<span class="medgenPMjournal">BMJ</span>
2017 Oct 26;359:j4452.
doi: 10.1136/bmj.j4452.
<span class="bold">PMID: </span><a href="/pubmed/29074563" target="_blank">29074563</a><a href="/pmc/articles/PMC5657463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19228602">Venous thromboembolism: risk factors for recurrence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
Martinez I,
Emmerich J</span><br />
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
2009 Mar;29(3):298-310.
doi: 10.1161/ATVBAHA.108.182428.
<span class="bold">PMID: </span><a href="/pubmed/19228602" target="_blank">19228602</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (90)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/33575779">Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
Chen Y,
Ye C,
Xing D,
Wu R,
Li F,
Chen L,
Wang T</span><br />
<span class="medgenPMjournal">Hum Reprod</span>
2021 Apr 20;36(5):1213-1229.
doi: 10.1093/humrep/deab010.
<span class="bold">PMID: </span><a href="/pubmed/33575779" target="_blank">33575779</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29074563">Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Croles FN,
Nasserinejad K,
Duvekot JJ,
Kruip MJ,
Meijer K,
Leebeek FW</span><br />
<span class="medgenPMjournal">BMJ</span>
2017 Oct 26;359:j4452.
doi: 10.1136/bmj.j4452.
<span class="bold">PMID: </span><a href="/pubmed/29074563" target="_blank">29074563</a><a href="/pmc/articles/PMC5657463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27121914">Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Vlijmen EF,
Wiewel-Verschueren S,
Monster TB,
Meijer K</span><br />
<span class="medgenPMjournal">J Thromb Haemost</span>
2016 Jul;14(7):1393-403.
Epub 2016 Jun 16
doi: 10.1111/jth.13349.
<span class="bold">PMID: </span><a href="/pubmed/27121914" target="_blank">27121914</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27058219">Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dziadosz M,
Baxi LV</span><br />
<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
2016 Jul;27(5):481-9.
doi: 10.1097/MBC.0000000000000562.
<span class="bold">PMID: </span><a href="/pubmed/27058219" target="_blank">27058219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25451211">Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres VM,
Saddi VA</span><br />
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
2015 Jan-Feb;91(1):22-9.
Epub 2014 Oct 16
doi: 10.1016/j.jped.2014.08.004.
<span class="bold">PMID: </span><a href="/pubmed/25451211" target="_blank">25451211</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20thrombophilia%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 (14)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2584620%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C2584620%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C2584620%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2584620%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS188050" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=217454" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20thrombophilia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20thrombophilia%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(%22Hereditary%20thrombophilia%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.nice.org.uk/guidance/ng158">NICE, 2023</a><div>UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023</div></li></ul></div>
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