This patient had a prolonged bleeding time, a low platelet count and large platelets. These features are the hallmark of the condition. Since the original condition was described a large number of patients have been identified with the syndrome. Although it is not exactly clear how many patients suffer from the illness, it is thought to occur in about 1 in a million patients. The purpose of this web-site is to gather information on the syndrome and to facilitate physicians in making the diagnosis and informing patients on the current status of research in the area.
Platelets are particles that circulate in the blood.
Their primary role is to cause clotting. When a platelet meets a damaged blood vessel, it tries to correct this damage by clotting. Bernard-Soulier platelets are missing a part of the platelet that is involved in the initial steps of a platelet forming a clot and consequently patients with the syndrome have bleeding problems. The patient suffered from bleeding problems from early childhood. For example following a tooth extraction he had prolonged bleeding.