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Summary Severe thrombocytopenia and seven problem-free births We present four patients from two Swiss families with a rare thrombocytopathy, Bernard-Soulier syndrome (BSS), with varying haemorrhagic diatheses. The diagnosis of BSS was suspected on the basis of a low platelet count and morphological changes to the thrombocytes. The platelets showed an isolated defect on ristocetin-induced agglutination. Immunophenotyping of the thrombocytes demonstrated lack of GP Ib expression of varying degree in comparison to normal controls. The combination of these findings confirmed the diagnosis of BSS. Differential diagnosis and treatment strategies are discussed. A congenital thrombocytopathy should always be considered in patients with thrombocytopenia of unknown origin and abnormal platelet morphology.

Schwere Thrombozytopenie und sieben problemlose Geburten