Sasahara Y, Kumaki S, Ohashi Y, Minegishi M, Kano H, Bessho F, Tsuchiya S
Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Miyagi, Japan.
Int J Hematol. 2001 Jul;74(1):109-14. doi: 10.1007/BF02982559.
We identified unusually large von Willebrand factor (vWF) multimers caused by deficient activity of vWF-cleaving protease in 2 patients with Upshaw-Schulman syndrome. The autoantibodies that inhibited the protease activity were not detected in the plasma of either patient. Periodic fresh-frozen plasma transfusion was effective for management of the hemolysis and thrombocytopenia. We detected enriched enzyme activity in a particular plasma fraction, although molecular cloning of this specific protease is needed to determine a more detailed pathogenesis and to develop new therapeutic approaches.
