Congenital afibrinogenemia in two sisters aged 8 years and 4 days were reported with a summarized review on the 25 reported cases in Japan.
Bleeding episodes of both patients started with umbilical bleeding in the newborn periods. An elder sister was given fibrinogen or fresh blood on hemorrhagic episodes, but suffered from acute hepatitis for 2 months at the age of 5 years.
A younger sister had umbilical bleeding on the 3 rd day of life which was ceased promptly by the fibrinogen administration, but she suffered from septicemia and died on 8 days of life.
In both patients fibrinogen in the blood was not detected by coagulative, physicochemical and immunological methods. Abnormalities of clotting factors other than fibrinogen, circulating anticoagulants and hyperfibrinolysis were not demonstrated. The platelet aggregation was studied on the elder sister and another congenital afibrinogenemic boy of 4 years old. ADP-induced platelet aggregation was decreased especially by a low concentration of ADP. This finding confirmed that the fibrinogen was necessary for ADP-induced platelet aggregation.
