[Thrombophilia caused by congenital disorders of blood coagulation]

Abstract

Today, more than 40% of all patients who develop a thrombosis are found to have inherited thrombophilia. The most common cause of this is APC resistance, which can usually be traced back to factor V-Leiden. In the commonly heterozygous patients the risk of thrombosis is increased about 7-fold (life-long risk of thrombosis 10 to 15%). In most cases, however, additional thrombogenic stimuli are required (oral contraception, pregnancy, surgery, immobilization). In combination with oral contraceptives, the risk is increased roughly 30-fold. In contrast, APC resistance does not present an increased risk for thrombosis in the arterial system (myocardial infarction, stroke). Four further inherited or acquired disorders of the hemostatic system are known: prothrombin dimorphism, antithrombin, protein C and protein S deficiencies. Prothrombin dimorphism, the second most common form of inherited thrombophilia, has been known only for the past two years and elevates the risk of thrombosis only to a moderate degree. Today, a search for thrombophilic factors should be carried out not only in young patients with spontaneous development of thrombosis, but also in elderly patients, even when an additional risk for the occurrence of thrombosis such as traumatization or immobilization is present. Therapeutic consequences are discussed.