Bernard-Soulier disease

Abstract

Bernard-Soulier disease, a congenital macrocytic thrombocytopathy, was first described in 1948. Currently, this pathology has again attracted the attention of many researchers, as the study of its pathogenesis has deepened the understanding of the mechanisms of the hemostatic process concerning the interaction of platelets with the damaged vessel wall. This rare disease (70 cases were described by 1983) is inherited as an incomplete autosomal recessive trait and is observed with equal frequency in males and females. Bleeding from mucous membranes of the nose, mouth and other organs, petechiae and ecchymoses on the skin usually appear in early childhood. Hemorrhagic syndrome is usually of moderate severity, but often (in 17% of patients) is the direct cause of death due to bleeding from the gastrointestinal tract or hemorrhage in the brain and its membranes.