Hereditary thrombocytopathies with abnormal release reaction (author's transl)

The authors have examined 8 cases with Hermansky-Pudlak syndrome in whom besides the usual abnormalities of abnormal aggregation with collagen, absence of second wave of aggregation, reduction of the 5-HT uptake, presence of 5-HIAA in the platelets, two new abnormalities are described: the presence of a large amount of an unidentified metabolite after 5-HT incorporation which differs from 5-HT and 5 hydroxytryptophol and an abnormal incorporation of labelled glycerol in the triglycerides. Correlation between abnormal lipid metabolism and defective 5-HT incorporation is discussed.