[ XXXX in a Swiss family].

@entity1 @entity3742 @entity882 @entity548 @entity1415 @entity134 @entity854 @entity931 @entity14628 @entity2880
We report the case of a 38-year-old @entity1 with @entity548 diathesis. Since early childhood she has suffered from @entity1415 , @entity548 , ecchymoses and, since puberty, very frequent @entity931 . Prolongation of bleeding time and @entity882 (100,000 platelets/microliter) with giant platelets were observed. Since @entity14628 was suspected, splenectomy was performed. Neither this nor @entity134 treatment caused any improvement. The @entity1 was able to give birth to an unaffected @entity1 , but delivery was followed by a major @entity548 . In 1986, hysterectomy was considered because of frequent @entity931 and, therefore, the @entity1 's hemostasis was reinvestigated. The aforementioned abnormalities were confirmed and complementary examinations by electron microscope revealed giant platelets without @entity854 . While @entity2880 factor was normal, ristocetin agglutination was defective and analysis of platelet membrane glycoproteins showed absence of glycoprotein Ib. - These observations prompted the diagnosis of @entity3742 . 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.
