The Bernard-Soulier syndrome is a disorder of platelets in which the platelets lack 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.
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.
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.
This disease was first recognized in 1948 by two French hematologists: Jean Bernard and Jean-Pierre Soulier. (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).
In this section of BSS, you can find out more about Bernard-Soulier Syndrome and the impact it can have on your body. Medical knowledge about Bernard-Soulier Syndrome has expanded greatly over the past 20 years, and treatments have become more effective and safer.
If you have a specific question about Bernard-Soulier Syndrome, please send an e-mail to firstname.lastname@example.org Dr. Weil is a haematologist oncologist and works for Children's Center for Cancer and Blood Disorders of Northern Virginia.