Thrombophilia

Common Name(s)

Thrombophilia

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by {11:Seligsohn and Lubetsky, 2001} and {12:Varga and Kujovich, 2012}). Genetic Heterogeneity of Thrombophilia THPH2 ({188055}) is caused by mutation in the F5 gene ({612309}) on chromosome 1q23; THPH3 ({176860}) and THPH4 ({612304}) are both caused by mutation in the PROC gene ({612283}) on 2q; THPH5 ({612336}) and THPH6 ({614514}) are caused by mutation in the PROS1 gene ({176880}) on 3q11; THPH7 ({613118}) is caused by mutation in the AT3 gene ({107300}) on 1q25; THPH8 ({300807}) is caused by mutation in the F9 gene ({300746}) on Xq27; THPH9 ({612348}) is associated with decreased release of tissue plasminogen activator (PLAT; {173370}); THPH10 ({612356}) is caused by mutation in the HCF2 gene ({142360}) on 22q11; THPH11 ({613116}) is caused by mutation in the HRG gene ({142640}) on 3q27; and THPH12 ({614486}) is associated with variation in the THBD gene ({188040}) on 20p11. Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1; {173360}); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 ({612358}) and HABP2 ({603924}) genes has also been reported. Protection against venous thrombosis is associated with variation in the F13A1 gene ({134570}) on 6p25.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombophilia" for support, advocacy or research.

APS Foundation of America, Inc.

The APS Foundation of America, Inc. is dedicated to fostering and facilitating joint efforts in the areas of education, public awareness, research and patient services in an effective and ethical manner.

Last Updated: 12 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombophilia" for support, advocacy or research.

APS Foundation of America, Inc.

The APS Foundation of America, Inc. is dedicated to fostering and facilitating joint efforts in the areas of education, public awareness, research and patient services in an effective and ethical manner.

http://www.apsfa.org

Last Updated: 12 Aug 2013

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General Resources

APS Foundation of America, Inc Fan Page

The APS Foundation of America, Inc. is the leading United States nonprofit health agency dedicated to bringing national awareness to Antiphospholipid Antibody Syndrome (APS).

Updated 13 Nov 2012

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Blogs

APS Friends & Support Forum

Are you looking for Support for Antiphospholipid Antibody Syndrome, APS, APLS, APLA, Hughes Syndrome, or Sticky Blood? Well you've come to the right place! This is an private forum for people who have Antiphospholipid Antibody Syndrome, friends, fam

Updated 13 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thrombophilia" returned 281 free, full-text research articles on human participants. First 3 results:

Asynchronous Bilateral Renal Infarction and Thrombophilia With Associated Gene Mutations in a 43-Year-Old Man: A Case Report.
 

Author(s): Xu-Jie Zhou, Li-Jun Liu, Min Chen, Fu-De Zhou

Journal: Medicine (Baltimore). 2016 Apr;95(14):e3258.

 

Renal infarction (RI) is frequently misdiagnosed or diagnosed late because of its rarity and nonspecific clinical presentation, which may result in irreversible damage to the renal parenchyma or increase the risk of other embolic events affecting additional organs. Multiple causal ...

Last Updated: 9 Apr 2016

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Thrombophilia testing patterns amongst patients with acute venous thromboembolism.
 

Author(s): Melissa R Meyer, Daniel M Witt, Thomas Delate, Samuel G Johnson, Margaret Fang, Alan Go, Nathan P Clark

Journal: Thromb. Res.. 2015 Dec;136(6):1160-4.

 

Thrombophilia testing has limited value in determining the selection and duration of anticoagulation therapy for venous thromboembolism (VTE), yet is commonly performed. This study describes the patterns and appropriateness of thrombophilia testing in a large cohort of patients with acute VTE.

Last Updated: 15 Dec 2015

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Life-Threatening Contraceptive-Related Pulmonary Embolism in a 14-Year-Old Girl with Hereditary Thrombophilia.
 

Author(s): Maja Hellfritzsch, Erik Lerkevang Grove

Journal:

 

The prothrombotic effect of combined oral contraceptives (COCs) is well-established, with a 3-6-fold increased risk of VTE compared to non-users. When initiation of COCs is considered, it is therefore of paramount importance to carefully evaluate all other potential risk factors for ...

Last Updated: 1 Oct 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thrombophilia" returned 63 free, full-text review articles on human participants. First 3 results:

Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.
 

Author(s): Scott M Stevens, Scott C Woller, Kenneth A Bauer, Raj Kasthuri, Mary Cushman, Michael Streiff, Wendy Lim, James D Douketis

Journal: J. Thromb. Thrombolysis. 2016 Jan;41(1):154-64.

 

Thrombophilias are hereditary and/or acquired conditions that predispose patients to thrombosis. Testing for thrombophilia is commonly performed in patients with venous thrombosis and their relatives; however such testing usually does not provide information that impacts management ...

Last Updated: 19 Jan 2016

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Thrombophilia and Pregnancy Complications.
 

Author(s): Louise E Simcox, Laura Ormesher, Clare Tower, Ian A Greer

Journal:

 

There is a paucity of strong evidence associated with adverse pregnancy outcomes and thrombophilia in pregnancy. These problems include both early (recurrent miscarriage) and late placental vascular-mediated problems (fetal loss, pre-eclampsia, placental abruption and intra-uterine ...

Last Updated: 4 Dec 2015

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Manifestations and clinical impact of pediatric inherited thrombophilia.
 

Author(s): Irene L M Klaassen, C Heleen van Ommen, Saskia Middeldorp

Journal: Blood. 2015 Feb;125(7):1073-7.

 

The etiology of pediatric venous thromboembolic disease (VTE) is multifactorial, and in most children, 1 or more clinical risk factors are present. In addition, inherited thrombophilic disorders contribute to the development of pediatric VTE. In this review, the role of inherited ...

Last Updated: 13 Feb 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Acute Phase Reactions and Thrombophilia in Pediatric Patients With Migraine
 

Status: Recruiting

Condition Summary: Migraine; Thrombophilia

 

Last Updated: 30 Aug 2015

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EFFects of Thrombophilia on the Outcomes of Assisted Reproduction Technologies
 

Status: Recruiting

Condition Summary: Birth Rate; Embryo Implantation; Reproductive Techniques; Thrombophilia

 

Last Updated: 19 May 2016

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Thrombin Generation and Gestational Outcome
 

Status: Recruiting

Condition Summary: Thrombophilia

 

Last Updated: 31 Oct 2016

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