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HOME   >     CASE STUDIES BY CELL TYPE   >     PLATELET DISORDERS   >     DISORDERS OF PLATELET ADHESION AND AGGREGATION   >     BERNARD-SOULIER SYNDROME
Bernard-Soulier Syndrome
Overview

Bernard-Soulier syndrome is a platelet function disorder caused by an abnormality in the genes for glycoprotein Ib/IX/V. These genes code for a group of linked proteins normally found on the surface of platelets, the glycoprotein Ib/IX/V receptor (also called the von Willebrand factor or VWF receptor). Because this receptor is absent or is not working properly, platelets do not stick to the injured blood vessel wall the way they should and it is difficult for the normal blood clot to form.1

 

Bernard-Soulier syndrome is an autosomal recessive disorder, meaning that both parents must carry an abnormal gene (even though they themselves don’t have the disease) and pass that abnormal gene on to their child. Like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common. Bernard-Soulier syndrome affects both males and females.1

 

Symptoms

Symptoms of Bernard-Soulier syndrome vary from one individual to the next. Signs of the disorder are usually first noticed during childhood. Individuals with Bernard-Soulier syndrome may experience:

 

  • Easy bruising
  • Nose bleeds
  • Bleeding from gums
  • Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth
  • Abnormal bleeding after surgery, circumcision, or dental work
  • Rarely, vomiting blood or passing blood in stool due to bleeding from the gut (gastrointestinal hemorrhage)
  • Bernard-Soulier syndrome often causes more problems for women than men because of menstruation and childbirth.1

 

Causes

Bernard-Soulier syndrome is caused by an autosomal recessive pattern of inheritance.1

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