Bernard-Soulier Disease

Bernard-Soulier disease

Bernard-Soulier disease is a rare hereditary disease of the blood system characterized by impaired platelet function.

The disease is named after French hematologists Jean Bernard (1907-2006) and Jean Pierre Soulier (1913-1954), who first described this disorder in 1948.

The cause of the disease is mutations in the genes responsible for the synthesis of platelet membrane proteins. This impairs the ability of platelets to stick to each other and form a blood clot.

Clinical manifestations: hemorrhagic syndrome - nasal, uterine, gastrointestinal bleeding, hemorrhages in the skin and mucous membranes. Patients experience thrombocytopenia and prolonged bleeding time.

Diagnosis is based on analysis of the clinical picture, platelet count, determination of platelet function and molecular genetic analysis.

Treatment is symptomatic - hemostatic and replacement therapy. The prognosis depends on the severity of bleeding.