Een familie met veneuze trombose en erfelijke proteïne S-deficiëntie

- Five of seven protein S deficient members of one family suffered from venous thromboembolism (the two others being only 11 and 12 years of age). The first thrombotic event occurred at the age of 18 to 32 years as spontaneous, extending superficial thrombophlebitis. This was followed by deep venous thrombosis in three, complicated by pulmonary embolism in two patients. Recurrences of thromboembolism with postthrombotic leg vein insufficiency occurred in the one patient who had not been treated with an anticoagulant. The clinical manifestations, the effectiveness of oral anticoagulant treatment and therefore the need for early detection of protein S deficiency with autosomal dominant inheritance are discussed.