A 48-year-old woman was admitted because of increased bloody sputum. Since she had had a history of repeated thrombotic episodes including
venous thrombosis in the lower limbs (21 year old) and pulmonary emboli developing into
pulmonary infarction (41 years old), the patient was treated with anti-
coagulant therapy using
Warfarin for 7 years.
Warfarin was discontinued after admission and
heparin was administered instead at a relatively low dose of 5,000 units daily, resulting in a considerable diminution of
hemoptysis. Unfortunately however, it caused a relapse of active
thrombosis associated not only with a significant increase of the product of fibrinolysis (
FDP), LDH and GOT but with a concomitant decrease of the platelet count. Hematological examinations concerning coagulation and fibrinolysis remained within a normal range except for the serum concentration of
antithrombin III (AT III) and its functional property with regard to the
heparin cofactor, which were 8.8 mg/dl and 48%, respectively. Since the findings were consistent with congenital deficiency of AT III, some members of her family were also examined. The concentration of AT III and its activity in the patient's son and her daughter deteriorated in a similar manner, indicating that this was a definite case of congenital deficiency of AT III. The clinical manifestations of 87 cases with congenital AT III deficiency, belonging to 24 families reported in Japan were reviewed.