Platelet function abnormalities in Gaucher disease patients

Bleeding manifestations are common in Gaucher disease patients. Although us ually attributed to thrombocytopenia, some patients with relatively high pl atelet counts and normal coagulation tests have hemorrhagic phenomena. To i nvestigate whether perturbed platelet function could explain these bleeding manifestations we performed platelet aggregation tests on 32 type I adult Gaucher patients who were not severely thrombocytopenic (platelet counts >5 0 x 10(9)/L), Seven patients (22%) had abnormal platelet aggregation. In fi ve, platelet aggregation was markedly reduced in response to collagen and A DP and virtually absent in response to epinephrine, whereas two patients ha d isolated severely impaired epinephrine-induced aggregation. In one patien t platelet aggregation markedly improved following one year of enzyme repla cement therapy. Incubating normal platelets with high concentrations of glu cocerebroside did not impair their ability to aggregate, suggesting that pl asma glucocerebroside does not directly interfere with platelet function. P latelet dysfunction is a hithero unrecognised, relatively common cause of e xcessive bleeding in Gaucher patients. Am. J. Hematol. 61:103-106 1999, (C) 1999 Wiley-Liss, Inc.