Bernard – Soulier Syndrome (BSS)

Bernard – Soulier Syndrome (BSS)
BSS is extremely rare. It has been estimated that this disease affects less than one person in a million. BSS is a blood clotting disorder that hinders the ability of blood platelets to stick together and spread around a broken vessel. Patients with BSS have an insufficient number of platelets. In addition, their platelets are larger than normal and do not function properly. The disorder is caused by a deficiency in a protein found on the surface of platelets. This protein is essential to the aggregation of platelets around injured blood vessels and a deficiency prolongs bleeding episodes because platelets fail to form a clot.
What are the symptoms?
People with BSS show signs of abnormal bleeding episodes during their first year of life and symptoms are can be:
Common symptoms
• Bruising
• Nosebleed
• Bleeding from the mouth
• Menorrhagia (heavy menstrual flow)

Rare symptoms
• Bleeding in the urinary tract
• gastrointestinal tract

How is it diagnosed?
BSS is diagnosed by a variety of blood tests that should be performed by a specialist at a Haemophilia/bleeding disorders treatment centre.
How is it treated?
There are two treatment options for severe bleeding a platelet transfusion or the administration of recombinant Factor VIIa may be used. Tranexamic acid helps hold the clot in place after it has formed. It has proven very useful in controlling mucosal bleeding (bleeding of the soft tis-sues, such as the mouth, nose, vagina, etc).
For more information on TREATMENT OPTIONS