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Platelet function abnormalities in Gaucher disease patients.

S Gillis1, E Hyam, A Abrahamov

  • 1Department of Hematology, Hadassah University Medical Center, Jerusalem, Israel. sgillis@md2.huji.ac.il

American Journal of Hematology
|June 15, 1999
PubMed
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Platelet dysfunction is a common cause of bleeding in Gaucher disease patients, even with normal platelet counts. This study identified impaired platelet aggregation in 22% of patients, highlighting a new factor in Gaucher-related bleeding.

Area of Science:

  • Hematology
  • Genetic Metabolic Disorders

Background:

  • Gaucher disease (GD) is a lysosomal storage disorder.
  • Bleeding is a frequent complication in GD patients.
  • Hemorrhagic phenomena can occur despite normal platelet counts and coagulation.
  • The role of platelet function in GD-related bleeding remains unclear.

Purpose of the Study:

  • To investigate whether impaired platelet function contributes to bleeding in Gaucher disease patients.
  • To assess platelet aggregation in adult patients with type I GD and adequate platelet counts.

Main Methods:

  • Platelet aggregation tests were performed on 32 adult type I Gaucher disease patients.
  • Patients had platelet counts greater than 50 x 10(9)/L.
  • Platelet aggregation was measured in response to collagen, ADP, and epinephrine.

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Main Results:

  • Seven patients (22%) exhibited abnormal platelet aggregation.
  • Five patients showed reduced aggregation to collagen and ADP, and absent aggregation to epinephrine.
  • Two patients had isolated, severe impairment of epinephrine-induced aggregation.
  • One patient's platelet aggregation improved after enzyme replacement therapy.
  • In vitro incubation of normal platelets with glucocerebroside did not affect aggregation.

Conclusions:

  • Platelet dysfunction is an unrecognized cause of excessive bleeding in Gaucher disease patients.
  • Impaired platelet aggregation is relatively common in GD, independent of severe thrombocytopenia.
  • These findings suggest a novel mechanism contributing to hemorrhagic complications in Gaucher disease.