Genetic thrombophilia.
The genetic thrombophilias are an important cause of venous thrombotic events. Much has been learned about the natural history of these disorders, their genetics, and, to a lesser degree, their treatment. This article provides an overview of the genetics of thrombophilia. Specific information on the factor V Leiden mutation;the prothrombin G20210A mutation; and protein C, proteinS, and antithrombin deficiency is reviewed. Current testing and treatment options for the genetic thrombophilias also are discussed.
Department of Community and Family Medicine, Dartmouth Medical School, Hanover, NH, 03755, USA. gfeero@mainegeneral.org
W Gregory
WG
Feero
D000328:Adult; D000368:Aged; D002648:Child; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D020246:Venous Thrombosis / Q000209:etiology* / Q000235:genetics / Q000517:prevention & control
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin