CONGENITAL AFIBRINOGENAEMIA REPORT OF A CASE WITH A REVIEW OF THE LITERATURE

Abstract

1. A case of congenital afibrinogenaemia, which is a rare cause of the haemorrhagic diathesis, is reported in a boy aged 11 years. 2. Six other cases which have been recorded in the literature are reviewed. 3. The principal clinical features of congenital afibrinogenaemia are its hereditary character, a high incidence of consanguinity in the parents, the susceptibility of both sexes, a total absence of fibrinogen in the blood, complete incoagulability of the blood, a bleeding time which is usually prolonged, a great reduction of capillary resistance, a low blood sedimentation rate, and intermittent thrombocytopenia. 4. Treatment of the severe haemorrhage is by intravenous transfusion with whole blood or non-processed plasma. 5. Absence of fibrinogen is regarded as the principal cause of the haemorrhagic diathesis in congenital afibrinogenaemia, but diminished capillary resistance may be a. contributory factor. 6. Four cases of congenital hypofibrinogenaemia which have been recorded in the literature are also reviewed. 7. The principal distinctions between congenital afibrinogenaemia and congenital hypofibrinogenaemia are discussed. The clotting time shows the greatest divergence; no clotting occurs in afibrinogenaemia, whereas it is normal in hypofibrinogenaemia. 8. The aetiology of both the congenital and acquired forms of afibrinogenaemia and of hypofibrinogenaemia is discussed.