Familial infantile thrombotic thrombocytopenic purpura.


PURPOSE To further define familial infantile thrombotic thrombocytopenic purpura and clarify its pathophysiology, we describe a family with two infants presenting with this rare syndrome. RESULTS Complete, but temporary remission followed the transfusion of whole blood in the first 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 multimers was demonstrated in the proband and the processing activity of these large multimers was found to be normal. CONCLUSION The occurrence of this rare disorder, in siblings who are products of a consanguinous union, suggests an as yet uncharacterized genetic defect.


Citations per Year

237 Citations

Semantic Scholar estimates that this publication has 237 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Daghistani1996FamilialIT, title={Familial infantile thrombotic thrombocytopenic purpura.}, author={Doured Daghistani and Joaquin J. Jimenez and Joel L. Moake and Marlies R Ledford and Adel A . Yunis}, journal={Journal of pediatric hematology/oncology}, year={1996}, volume={18 2}, pages={171-4} }