Bernard-Soulier syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nose bleeds (epistaxis), and/or gum (gingival) bleeding. Later problems can occur with anything which can induce bleeding such as menstruation, trauma, surgery, or stomach ulcers.
Bernard-Soulier syndrome is an inherited disease and is transmitted in an autosomal recessive pattern. 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 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.
There is no specific treatment for Bernard-Soulier syndrome. Bleeding episodes may require platelet transfusions.
The abnormal platelets in the Bernard-Soulier syndrome are usually considerably larger than normal platelets when viewed on blood films or sized by automated instruments. However, this is not the only syndrome with large platelets. Specific platelet function tests as well as tests for the glycoproteins can confirm the diagnosis.
This disease was first recognized in 1948 by two French hematologists: Jean Bernard (1907-) and Jean-Pierre Soulier (1915-). (Because the disease is named not for one man whose name was Bernard Soulier but for these two men, there should be a hyphen in the Bernard-Soulier syndrome).