[Bernard-Soulier syndrome in a Swiss family]

We report the case of a 38-year-old woman with hemorrhagic diathesis. Since early childhood she has suffered from epistaxis, gingival bleeding, ecchymoses and, since puberty, very frequent menorrhagia. Prolongation of bleeding time and thrombocytopenia (100,000 platelets/microliter) with giant platelets were observed. Since idiopathic thrombopenic purpura was suspected, splenectomy was performed. Neither this nor steroid treatment caused any improvement. The patient was able to give birth to an unaffected child, but delivery was followed by a major hemorrhage. In 1986, hysterectomy was considered because of frequent menorrhagia and, therefore, the patient's hemostasis was reinvestigated. The aforementioned abnormalities were confirmed and complementary examinations by electron microscope revealed giant platelets without granular abnormalities. While von Willebrand factor was normal, ristocetin agglutination was defective and analysis of platelet membrane glycoproteins showed absence of glycoprotein Ib. - These observations prompted the diagnosis of Bernard-Soulier syndrome. The study of the family demonstrated that 6 family members were heterozygote. This is believed to be the first large Bernard-Soulier family reported in Switzerland.