Bernard-Soulier Disease
(Giant Platelet Syndrome)
Medical Author: David Perlstein, MD, FAAP
Medical Editor: William C. Shiel Jr., MD, FACP, FACR
What is Bernard-Soulier syndrome?
The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the
giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding.
What are the symptoms and signs of Bernard-Soulier syndrome?
Bernard-Soulier syndrome usually
presents in the newborn period, infancy, or early childhood with
bruises, nosebleeds (epistaxis),
and/or gum (gingival) bleeding. Later problems can occur with anything
that can induce bleeding such as menstruation, trauma, surgery, or
stomach ulcers.
What is the cause of Bernard-Soulier syndrome?
Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. The prevalence is believed to be less than
one in 1 million individuals. The molecular basis is now known and is due to a defect in the platelet glycoprotein complex 1b-IX-V. This is referred to as an adhesion complex and forms a receptor that enables platelets to stick together to form a clot. Normal platelets circulate in the blood and are the primary cells responsible for initiating clotting. Without this receptor, platelets cannot stick together and clotting does not occur normally. The parents of a child with B-SS will have a decrease in the glycoprotein but no impairment of platelet function and no abnormal bleeding. The Bernard-Soulier gene has been mapped to the short (p) arm of chromosome 17 (in the region 17pter-17p12).
Next: How is Bernard-Soulier syndrome diagnosed? »
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