Essential Athrombiaと思われる症例

—2世代にわたる血族結婚の家系で発見された3例—

抄録

Essential athrombia is one of the congenital hemorrhagic disorders caused by the qualitative defect of blood platelets. In the present paper, detailed study of three cases and their nine relatives is reported.
Case 1 (proposita); 12-year-old girl. She is a product of consanguineous marriage, and her parents are also the products of consanguinity. One of her sisters and one of her aunts of father's side are died from severe bleeding in infancy. Laboratory data revealed slight thrombocytopenia, prolonged bleeding time and slightly defective clot retraction. As for the platelet function tests, glass retention and aggregation induced by ADP, collagen, adrenalin and thrombin were impaired. Bovine fibrinogen and Ristocetin induced aggregation were normal. Platelet Factor 3 availability and thrombelastogram gave normal results.
Case 2; 22-year-old female, Case 3; 33-year-old female. Both are the aunts of father's side of Case 1. Laboratory data of both cases revealed slight thrombocytopenia, prolonged bleeding time and defective platelet aggregation resembled with that of Case 1. Clot retraction and glass retention of platelets were within normal range.
As for the nine members of the family, the bleeding time were normal and none of them have clinical bleeding tendency. Some of them, however, were suspected to have defective platelet aggregation when induced by ADP.