Medical Definition of Bernard-Soulier syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 12/27/2018

Bernard-Soulier syndrome: A disorder in which the platelets crucial to normal blood clotting lack the ability to adequately stick to injured blood vessel walls, leading to abnormal bleeding. Bernard-Soulier syndrome usually appears in the newborn period, infancy, or early childhood, with bruises, nosebleeds, and gum bleeding. Bernard-Soulier syndrome is an inherited disease, transmitted as an autosomal recessive trait. There is no specific treatment. Bleeding episodes may require platelet transfusions. Specific platelet function tests, as well as tests for the glycoproteins common to Bernard-Soulier syndrome, can confirm the diagnosis. Also known as giant platelet syndrome.

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Reviewed on 12/27/2018