International Journal of Hematology

, Volume 74, Issue 1, pp 101–108

Upshaw-Schulman Syndrome Revisited: A Concept of Congenital Thrombotic Thrombocytopenic Purpura

  • S. Kinoshita
  • A. Yoshioka
  • Y. D. Park
  • H. Ishizashi
  • M. Konno
  • M. Funato
  • T. Matsui
  • K. Titani
  • H. Yagi
  • M. Matsumoto
  • Y. Fujimura
Case Report


Upshaw-Schulman syndrome (USS) is a congenital bleeding disorder characterized by repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia that respond to infusions of fresh frozen plasma. Inheritance of USS has been thought to be autosomal recessive, because 2 siblings in the same family are often affected but their parents are asymptomatic. Recently, chronic relapsing thrombotic thrombocytopenic purpura (CR-TTP), reported almost exclusively in adults, was shown to be caused by inherited or acquired deficiency in the activity of a plasma von Willebrand factor-cleaving protease (vWF-CPase).The pathogenesis of USS is unknown, and a relationship between CR-TTP and USS has not been reported. We studied 3 unrelated USS patients (ST, SY, and KI) who presented with severe indirect neonatal hyperbilirubimenia. All 3 patients had undetectable vWF-CPase activity, and the inhibitors to vWF-CPase were all negative. In their parents with no clinical symptoms, vWF-CPase activities as a percentage of control samples (mother/father) were 17/20 for ST, 60/45 for SY, and 36/5.6 for KI. Thus, USS and vWF-CPase activity appear to be coinherited as autosomal recessive traits. Transfusion of fresh frozen plasma in 2 patients (ST and SY) resulted in the expected maximal increment of approximately 7% to 8% in vWF-CPase activity at 1 to 4 hours, but the levels became less than 3% within 2 days. After this decrease, platelet counts increased, plateaued in the normal range at 10 to 12 days, and declined thereafter. Thus, the 2 to 3 weeks of therapeutic benefit from plasma infusions will be discussed in relation to the intravascular lifetime of vWF-CPase.

Key words

Upshaw-Schulman syndrome Chronic relapsing TTP von Willebrand factor-cleaving protease Fresh frozen plasma 


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Copyright information

© The Japanese Society of Hematology 2001

Authors and Affiliations

  • S. Kinoshita
    • 1
  • A. Yoshioka
    • 1
  • Y. D. Park
    • 1
  • H. Ishizashi
    • 2
  • M. Konno
    • 3
  • M. Funato
    • 4
  • T. Matsui
    • 5
  • K. Titani
    • 5
  • H. Yagi
    • 6
  • M. Matsumoto
    • 6
  • Y. Fujimura
    • 6
  1. 1.Departments of PediatricsNara Medical UniversityNara
  2. 2.Health ScienceNara Medical UniversityNara
  3. 3.Department of PediatricsSapporo Kosei General HospitalSapporo
  4. 4.Department of PediatricsYodogawa Christian HospitalOsaka
  5. 5.Institute of Comprehensive Medical Science, Fujita Health UniversityAichiJapan
  6. 6.Blood Transfusion MedicineNara Medical UniversityNara
  7. 7.Department of Blood Transfusion MedicineNara Medical UniversityKashihara City, NaraJapan

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