Juliet Cohen

Bernard-Soulier syndrome Detailed Information

 Bernard-Soulier syndrome is an inherited disease and is transmitted in an autosomal recessive pattern.

Bernard-Soulier syndrome is the second most common genetic bleeding disorder that results as an effect of defects in platelet function. This is a vital aspect of the process of forming a blood clot, and as a result of this problem there is abnormal bleeding. Bernard-Soulier syndrome usually presents in the newborn period, babyhood, or early childhood with bruises, nose bleeds (epistaxis), and/or gum (gingival) bleeding. Bleeding times are increased in Bernard-Soulier syndrome but the distinguishing abnormality is the failure of platelet aggregation (agglutination) in the presence of ristocetin.

Most patients have either a decrease or absence of all four proteins of the platelet GPIb complex. The complex is composed of GPIba, GPIbß, GPIX and GPV. This platelet glycoprotein complex serves as a binding site for von Willebrand factor (vWF) which then acts as a bridge between sub-endothelial extracellular matrix collagen fibrils exposed at the site of injury and platelets. This relation between the platelet GPIb complex, vWF and collagen is totally needed for platelet adhesion and subsequent aggregation at the site of injury.

Presently problems can arise with anything which can encourage bleeding such as menstruation, trauma, surgery, or stomach ulcers. 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 molecular basis is known and is due to a deficiency in platelet glycoproteins IB, V, and IX. The parents have a diminish 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. There is no definite treatment for Bernard-Soulier syndrome. Bleeding episodes may need platelet transfusions. A coagulation drug known as DDAVP may also be of short-term advantage. The abnormal platelets in the Bernard-Soulier syndrome are usually significantly larger than normal platelets when viewed on blood films or sized by automated instruments.

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