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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How do you compare to others with this condition?

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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 Support Organizations

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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 274 free, full-text research articles on human participants. First 3 results:

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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Thrombophilia Associated with Anti-DFS70 Autoantibodies.
 

Author(s): Julien Marlet, Annick Ankri, Jean-Luc Charuel, Pascale Ghillani-Dalbin, Amélie Perret, Isabelle Martin-Toutain, Julien Haroche, Zahir Amoura, Lucile Musset, Makoto Miyara

Journal:

 

Anti-DFS70 antibodies are the most frequent antinuclear antibodies (ANA) found in healthy individuals. We assessed the clinical significance of the presence of anti-DFS70 antibodies.

Last Updated: 24 Sep 2015

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ALIFE2 study: low-molecular-weight heparin for women with recurrent miscarriage and inherited thrombophilia--study protocol for a randomized controlled trial.
 

Author(s): Paulien G de Jong, Siobhan Quenby, Kitty W M Bloemenkamp, Babette A M Braams-Lisman, Jan Peter de Bruin, Arri Coomarasamy, Michele David, Maria T DeSancho, Olivier W H van der Heijden, Annemieke Hoek, Barbara A Hutten, Kristin Jochmans, Carolien A M Koks, Walter K M Kuchenbecker, Ben Willem J Mol, Helen L Torrance, Hubertina C J Scheepers, Mary D Stephenson, Harold R Verhoeve, Jantien Visser, Johanna I P de Vries, Mariëtte Goddijn, Saskia Middeldorp

Journal:

 

A large number of studies have shown an association between inherited thrombophilia and recurrent miscarriage. It has been hypothesized that anticoagulant therapy might reduce the number of miscarriages and stillbirth in these women. In the absence of randomized controlled trials ...

Last Updated: 3 Jun 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 60 free, full-text review articles on human participants. First 3 results:

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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Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.
 

Author(s): Vinicius M Torres, Vera A Saddi

Journal: J Pediatr (Rio J). ;91(1):22-9.

 

This review aimed to organize and consolidate the latest knowledge about mutations and genetic polymorphisms related to hereditary thrombophilia and their potential association with pediatric stroke and cerebral palsy (CP).

Last Updated: 24 Jan 2015

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Cardiology patient page. Thrombophilia and hypercoagulability.
 

Author(s): Gregory Piazza

Journal: Circulation. 2014 Jul;130(2):e9-10.

 

Last Updated: 8 Jul 2014

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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

Heparin for Pregnant Women With Thrombophilia
 

Status: Not yet recruiting

Condition Summary: Pregnancy and Thrombophilia

 

Last Updated: 24 Nov 2009

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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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Arterial Microcirculation, Macrocirculation and Thrombophilias
 

Status: Recruiting

Condition Summary: Thrombophilia

 

Last Updated: 9 Jul 2010

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