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

Rivaroxaban as an effective alternative to warfarin in a patient with atrial fibrillation, thrombophilia, and left atrial appendage thrombus: a case report.
 

Author(s): Michele Scarano, Matteo Casale, Cesare Mantini, Egidio Imbalzano, Cristiana Consorti, Daniela Clemente, Giuseppe Dattilo

Journal:

 

Atrial fibrillation is the most common cardiac arrhythmia. It is responsible for up to 20% of all ischemic strokes. Rate control and anticoagulation are crucial for atrial fibrillation management and stroke prevention.

Last Updated: 9 Apr 2017

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A genetic risk factor for thrombophilia in a Han Chinese family.
 

Author(s): Guoping Sun, Yicong Jia, Jingye Meng, Minglin Ou, Peng Zhu, Shan Cong, Yadan Luo, Weiguo Sui, Yong Dai

Journal: Mol Med Rep. 2017 Apr;15(4):1668-1672.

 

Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, ...

Last Updated: 5 Mar 2017

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Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism.
 

Author(s): Matt Halvorsen, Ying Lin, Barbara A Sampson, Dawei Wang, Bo Zhou, Lucy S Eng, Sung Yon Um, Orrin Devinsky, David B Goldstein, Yingying Tang

Journal: EBioMedicine. 2017 Mar;17():95-100.

 

Acute unprovoked idiopathic fatal pulmonary embolism (IFPE) causes sudden death without an identifiable thrombogenic risk. We aimed to investigate the underlying genomic risks of IFPE through whole exome sequencing (WES).

Last Updated: 8 Feb 2017

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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 66 free, full-text review articles on human participants. First 3 results:

Direct Oral Anticoagulants in Patients with Thrombophilia: Challenges in Diagnostic Evaluation and Treatment.
 

Author(s): Anetta Undas, Tadeusz Góralczyk

Journal: Adv Clin Exp Med. ;25(6):1321-1330.

 

Direct oral anticoagulants (DOACs) or non-vitamin K oral anticoagulants (NOACs) are increasingly used in the prevention of recurrent venous thromboembolism (VTE), including that associated with thrombophilia. The efficacy of DOACs in thrombophilic patients, especially those with severe ...

Last Updated: 28 Dec 2016

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Modulating thrombotic diathesis in hereditary thrombophilia and antiphospholipid antibody syndrome: a role for circulating microparticles?
 

Author(s): Elena Campello, Claudia M Radu, Luca Spiezia, Paolo Simioni

Journal: Clin. Chem. Lab. Med.. 2017 Jun;55(7):934-943.

 

Over the past decades, there have been great advances in the understanding of the pathogenesis of venous thromboembolism (VTE) in patients with inherited and acquired thrombophilia [mainly antiphospholipid antibody syndrome (APS)]. However, a number of questions remain unanswered. ...

Last Updated: 6 Nov 2016

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Thrombophilia and assisted reproduction technology-any detrimental impact or unnecessary overuse?
 

Author(s): Baris Ata, Bulent Urman

Journal: J. Assist. Reprod. Genet.. 2016 Oct;33(10):1305-1310.

 

The aim of this study is to provide an overview of the studies investigating a possible association between thrombophilia and assisted reproductive technology (ART) outcome.

Last Updated: 17 Jul 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

EFFects of Thrombophilia on the Outcomes of Assisted Reproduction Technologies
 

Status: Recruiting

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

 

Last Updated: 2 Dec 2016

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Thrombin Generation and Gestational Outcome
 

Status: Recruiting

Condition Summary: Thrombophilia

 

Last Updated: 31 Oct 2016

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Detecting Hypercoagulability in Morbidly Obese and Non Obese Parturients Following Cesarean Section Delivery
 

Status: Recruiting

Condition Summary: Pregnancy; Obesity; Hypercoagulability

 

Last Updated: 5 Jul 2017

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