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.
Feero
W Gregory
WG
Department of Community and Family Medicine, Dartmouth Medical School, Hanover, NH, 03755, USA. gfeero@mainegeneral.org
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