FAMILIAL INFANTILE THROMBOTIC THROMBOCYTOPENIC PURPURA

Purpose: To further define familial infantile thrombotic thrombocytope nic purpura and clarify its pathophysiology, we describe a family with two infants presenting with this rare syndrome. Results: Complete, bu t temporary remission followed the transfusion of whole blood in the f irst sibling and fresh frozen plasma (FFP) in the second. Periodic FFP transfusions have kept the surviving proband in a prolonged clinical remission. The presence of unusually large von Willebrand factor multi mers was demonstrated in the proband and the processing activity of th ese large multimers was found to be normal. Conclusion: The occurrence of this rare disorder, in siblings who are products of a consanguinou s union, suggests an as yet uncharacterized genetic defect.