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Bernard-Soulier Syndrome(BSS) is a rare inherited bleeding disorder that affects the normal function of platelets. Platelets are essential blood cells that help stop bleeding by attaching to damaged blood vessels and forming clots. In BSS, a specific platelet surface protein complex called glycoprotein Ib-IX-V is defective or absent, preventing platelets from adhering properly to injured blood vessel walls.
The condition is usually inherited in an autosomal recessive pattern, meaning an affected person generally receives an altered gene from both parents. Common symptoms include frequent nosebleeds, easy bruising, prolonged bleeding after injuries, heavy menstrual bleeding, and excessive bleeding following dental procedures or surgery. Some individuals may experience bleeding from the gums or gastrointestinal tract.

Blood tests commonly reveal a low platelet count and unusually large platelets. Specialized platelet function testing and genetic analysis may help confirm the diagnosis. Because platelet function is impaired, standard clotting tests may not fully reflect the severity of the disorder.

Treatment focuses on preventing and controlling bleeding. Local measures, antifibrinolytic medicines, and platelet transfusions may be used when bleeding is significant or during surgical procedures. Patients should receive individualized care from a haematologist and avoid medicines that can further interfere with platelet function unless medically advised.