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 1q23-q25; 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}); SERPINA10 ({605271}); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the 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 178 free, full-text research articles on human participants. First 3 results:

Clinical profile, common thrombophilia markers and risk factors in 85 young Indian patients with arterial thrombosis.
 

Author(s): Mahendra Narain Mishra, Ravi Kalra, Shalesh Rohatgi

Journal: Sao Paulo Med J. 2013 ;131(6):384-8.

 

Arterial thrombosis may occur consequent to hereditary thrombophilia and increased lipoprotein(a) [Lp(a)] and fibrinogen. Our aim was to study the prevalence of common thrombophilia markers in 85 consecutive cases of arterial thrombosis.

Last Updated: 18 Dec 2013

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Genotype of proband and thrombophilia screening.
 

Author(s): Per Morten Sandset

Journal: Blood. 2013 Oct;122(15):2528-9.

 

Last Updated: 11 Oct 2013

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Prevalence of genetic risk factors related with thrombophilia and hypofibrinolysis in patients with osteonecrosis of the femoral head in Poland.
 

Author(s): Jacek Gagala, Monika Buraczynska, Tomasz Mazurkiewicz, Andrzej Ksiazek

Journal:

 

The etiology of osteonecrosis of femoral head (ONFH) has not been fully elucidated. Increased intravascular coagulation and/or hypofibrinolysis have been proposed as pathogenic mechanisms. Previous reports demonstrated significant association between incidence of ONFH and polymorphisms ...

Last Updated: 15 Nov 2013

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

[Hereditary thrombophilia and pregnancy: thrombotic risk and pregnancy outcome].
 

Author(s): Ana Glória Fonseca

Journal: Acta Med Port. ;25(6):433-41.

 

Thromboembolic disease and obstetric complications related to ischemia of the placenta are currently the major causes of maternal mortality and morbidity. Thrombophilia been implicated in their aetiology and the magnitude of the risk depends on the type of thrombophilia. As the evidence ...

Last Updated: 28 Mar 2013

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Activated protein C anticoagulant system dysfunction and thrombophilia in Asia.
 

Author(s): Naotaka Hamasaki, Hiroyuki Kuma, Hiroko Tsuda

Journal: Ann Lab Med. 2013 Jan;33(1):8-13.

 

Thrombophilia that is common among Caucasians is caused by genetic polymorphisms of coagulation factor V Leiden (R506Q) and prothrombin G20210A. Unlike that in Caucasians, thrombophilia that is common in the Japanese and Chinese involve dysfunction of the activated protein C (APC) ...

Last Updated: 9 Jan 2013

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Is thrombophilia testing useful?
 

Author(s): Saskia Middeldorp

Journal: Hematology Am Soc Hematol Educ Program. 2011 ;2011():150-5.

 

Thrombophilia is found in many patients presenting with venous thromboembolism (VTE). However, whether the results of such tests help in the clinical management of such patients has not been determined. Thrombophilia testing in asymptomatic relatives may be useful in families with ...

Last Updated: 14 Dec 2011

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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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Arterial Microcirculation, Macrocirculation and Thrombophilias
 

Status: Recruiting

Condition Summary: Thrombophilia

 

Last Updated: 9 Jul 2010

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Acute Phase Reactions and Thrombophilia in Pediatric Patients With Migraine
 

Status: Recruiting

Condition Summary: Migraine; Thrombophilia

 

Last Updated: 18 Jul 2013

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