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REVISTA MEDICALA ROMANA - Romanian Medical Journal, Vol. LXI, Nr. 2, An 2014
ISSN 1220-5478  |  e-ISSN 2069-606X
ISSN-L 1220-5478
DOI: 10.37897/RMJ

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GENETIC RISK FACTORS ASSOCIATED WITH ANTIPHOSPHOLIPID SYNDROME

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ABSTRACT

Antiphospholipid syndrome (APS) is characterized by venous or arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL) or antibodies directed to various proteins, mainly beta2-glycoprotein 1 (β2-GP1), or in the presence of all three. It is possible that some people with APS have a genetic predisposition for developing this syndrome. Genetic susceptibility related to aPL and APS has been extensively examined during recent years. It is becoming increasingly clear that interactions between more than one genetic abnormality or between a genetic factor and environment components determine whether and when an individual will suffer from venous thrombosis. Given the fact that APS is characterized mainly by the presence of thromboembolic events, it seems perfectly plausible that several genetic factors may also be involved in its pathophysiology. Despite the strong association between aPL and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. This review focuses on some of the genetic risk factors associated with APS.

Keywords: genetics, antiphospholipid antibody, antiphospholipid syndrome

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