Bernard – Soulier Syndrome (BSS)

Bernard-Soulier Syndrome (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 causes BSS?

This is an inherited bleeding disorder, which affects both males and females equally. It is recessive, meaning that the gene defect is inherited from both parents (even though they themselves do not have BSS).

If you carry one copy of the gene fault, you are known as the carrier. You can only pass BSS onto your children if your partner also carries the gene fault. You will not have the condition yourself, but if your children inherit the gene from you they too will be carriers.

What are the symptoms?

People with BSS show signs of abnormal bleeding episodes during their first year of life and symptoms can be:

      • Bleeding after surgery, dental work or circumcision

      • Bleeding from the umbilical cord stump at birth

      • Gastrointestinal bleeding

      • Blood in the urine

      • Easy bruising

      • Heavier than usual bleeding after childbirth

      • Heavy periods that last longer than usual

      • Nosebleeds or bleeding into the mouth

    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?

    Most people with BSS only need treatment during surgery or dental work and after injury or accidents. BSS can be treated with:

        • Antifibrinolytic drugs

        • Fibrin sealants

        • Hormonal contraceptives (for heavy menstrual bleeding)

        • Iron replacement (to treat anaemia caused by excessive bleeding)

        • Platelet transfusions (only if bleeding is severe)

        • Recombinant Factor VIIa