Bernard-Soulier Disease: Symptoms & Signs

Medically Reviewed on 10/19/2020

Bernard-Soulier disease is a rare inherited bleeding disorder characterized by abnormal blood platelets and abnormal blood clotting.

Signs and symptoms of Bernard-Soulier disease include

  • bleeding excessively from cuts and other injuries,
  • nosebleeds (epistaxis),
  • easy bruising,
  • bleeding from the gums, and
  • unusually heavy menstrual flow in women.

Newborns may show excessive bleeding after circumcision. There is frequently a history of another family member with similar bleeding symptoms. Severe bleeding following trauma can cause significant complications.

Cause of Bernard-Soulier disease

A defect in the platelet glycoprotein complex 1b-IX-V causes Bernard-Soulier disease, which people inherit in an autosomal recessive manner, meaning both parents must pass on a copy of the defective gene for a person to be affected.

Other bernard-soulier disease

  • Bleeding Excessively from Cuts and Other Injuries
  • Bleeding from the Gums
  • Easy Bruising
  • Nosebleeds (Epistaxis)
  • Unusually Heavy Menstrual Flow in Women

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.