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Deficient Activity of von Willebrand Factor-Cleaving Protease in Patients With Upshaw-Schulman Syndrome

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Abstract

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.

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Author notes

  1. Yoji Sasahara

    Present address: Department of Immunology, Harvard Medical School, Children’s Hospital, 02115, Boston, MA

Authors and Affiliations

  1. Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Miyagi

    Yoji Sasahara, Satoru Kumaki, Yoshiyuki Ohashi & Shigeru Tsuchiya

  2. Department of Blood Transfusion, Tohoku University Hospital, Miyagi

    Masayoshi Minegishi

  3. Department of Pediatrics, Tokyo University School of Medicine, Tokyo, Japan

    Hirotsugu Kano & Fumio Bessho

Authors
  1. Yoji Sasahara
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  2. Satoru Kumaki
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  3. Yoshiyuki Ohashi
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  4. Masayoshi Minegishi
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  5. Hirotsugu Kano
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  6. Fumio Bessho
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  7. Shigeru Tsuchiya
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Corresponding author

Correspondence to Shigeru Tsuchiya.

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Sasahara, Y., Kumaki, S., Ohashi, Y. et al. Deficient Activity of von Willebrand Factor-Cleaving Protease in Patients With Upshaw-Schulman Syndrome. Int J Hematol 74, 109–114 (2001). https://doi.org/10.1007/BF02982559

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  • DOI: https://doi.org/10.1007/BF02982559

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