Congenital vascular defect associated with platelet abnormality and antihemophilic factor deficiency.

With the assistance of Mrs. Ruth T. Davidson and Mrs. Mary Jane Ussery T HE CONGENITAL hemorrhagic diseases characterized by prolonged bleeding time are poorly classified and incompletely understood. The bleeding tendency in these diseases is usually attributed to ( a ) a “defect of the capillary wall,” or ( b ) a “qualitative defect of platelets.” Under the first heading are included those individuals in whom the prolonged bleeding time is the only demonstrable abnormality. Such individuals are often classified under the name of “hereditary capillary defect” or “pseudo-hemophilia.” The second group includes those cases in which the prolonged bleeding time is associated with a morphologic, physical or chemical abnormality of platelets, for which reason the term “thrombocytopathic purpura” has been applied to these conditions.1 The simplicity of this classification is only apparent. Thus, with the continuous evolution of the technics used in the field of hemorrhagic diseases, “new” phenomena are constantly being discovered, and the number of subdivisions of these main groups, and their overlap with other groups, is proportionally increased. The most remarkable example of this process is offered by the recognition of the conditions in which the prolonged bleeding time is associated with a deficiency of plasma factors. Alexander and Goldstein2 described in 1953 a case of this kind. Numerous other reports followed this communication37 and the possible identity of the deficient factor with antihemophilic factor (AHF) became apparent. Within the category “defect of the capillary wall” a new subdivision was created, and the terms “pseudo-hemophilia B”TM and “angiohemophilia”#{176} were introduced to include these cases. \Vhile these developments were unfolding Jurgens was conducting a new cycle of investigations’0 on the Aland families previously studied,1’ demonstrating a deficiency of AHF in those patients in whom a platelet qualitative defect had already been proved.12