Congenital thrombophilia

Abstract

The heritable defects which are at present accepted as proven to be associated with familial venous thrombosis are deficiency of antithrombin (AT), protein C (PC) or protein S (PS) and the FV Leiden mutation. In women from symptomatic kindred each of these defects is associated with increased risk of pregnancy-associated venous thrombosis and increased risk of fetal loss and other vascular complications of pregnancy. The risks appear to be greatest for some types of AT deficiency. These defects are very common but there is growing evidence that congenital thrombophilia is a multigene defect and abnormalities of AT or of the PC-PS system represent only part of the genetic thrombotic predisposition in symptomatic families. Currently it seems reasonable to focus resources on women with AT or PC-PS system abnormalities who are themselves already symptomatic or who come from symptomatic families rather than screen whole populations for these defects. In symptomatic families screening of females around the time of puberty allows time for education and counselling. Pregnancies should be planned, and each pregnancy in each patient managed individually. In general though, women with AT deficiency from symptomatic families require anticoagulant prophylaxis throughout pregnancy and for at least 3 months post-partum, whereas those with PC-PS system defects may require third-trimester plus post-partum prophylaxis or post-partum anticoagulant prophylaxis only.