What is Bernard-Soulier Syndrome?

Bernard-Soulier Syndrome (BSS) is a bleeding disorder. It is rare, hereditary, it affects both men and women, and can be severe. The syndrome is named after the two French hematologists that first described it in 1948, Jean Bernard and Jean-Pierre Soulier. Other names for this syndrome are: Giant Platelet Syndrome, Congenital Hemorrhagiparous Thrombocytic Dystrophy, and Platelet Glycoprotein Ib Deficiency.

2) What are the characteristics of Bernard-Soulier Syndrome?

The three main characteristics of this syndrome are: a) hemorrhagic diathesis (i.e. bleeding tendency, prolonged bleeding time), b) abnormally big platelets (hence the term "giant platelet syndrome"), and c) thrombocytopenia.

3) What are platelets?

Platelets (a.k.a. thrombocytes) are tiny cellular blood components that help blood to clot. What is more, platelets are the body's first line of defense against bleeding (primary hemostasis). Whenever we sustain a cut, however small, platelets rush to the site of the injury (platelet aggregation), clump together (platelet adhesion) and form a clot, a scab (platelet activation and formation of the platelet hemostatic plug).

4) What is thrombocytopenia?

Thrombocytopenia (a.k.a. thrombopenia) is the medical term that describes a low platelet count, i.e. a deficiency of platelets in the circulating blood. The term thrombocytopenia derives from the Greek words thrombocyte (= platelet) and penia (= lack, dearth, deficiency). Thrombocyte literally means "clotting cell" (from the Greek thrombos, clot, and -cyte, cell)

5) So... what causes the bleeding tendency in Bernard-Soulier Syndrome?

There is a special glycoprotein (GPIb) on the platelet membrane. This glycoprotein is essential to normal blood coagulation. Together with the clotting factors V and IX, GPIb forms the GPIb/V/IX complex, which in turn acts as a receptor for von Willebrand Factor (vWF), a key player in primary hemostasis in general and platelet adhesion in particular. When the glycoprotein GPIb is absent or deficient, as in Bernard-Soulier Syndrome, primary hemostasis cannot take place and the patient is susceptible to bleeding.

6) What are the symptoms of Bernard-Soulier Syndrome?

BSS symptoms are essentially the same as with any platelet disorder, whether quantitative or qualitative: spontaneous bleeding from the nose (epistaxis) and gums, blood in the urine and/or stools, unusually heavy menstruation (menorrhagia), abnormal bruising, and petechiae (tiny little reddish marks on the skin, resembling a rash).

7) How is Bernard-Soulier Syndrome diagnosed?

Laboratory tests that can diagnose BSS include complete blood count (CBC), coagulation tests (bleeding time), as well as special tests that study GPIb and platelet adhesion.

8) How is Bernard-Soulier Syndrome treated?

Bernard-Soulier Syndrome is a lifelong condition. There is no cure for BSS. Treatment is symptomatic, i.e. it is basically provided to control the bleeding. Platelet transfusions are given in case of severe bleeding, or as a prophylactic measure before major surgery. The most important aspect of BSS management is prevention: For example, patients with BSS should never take anti-platelet drugs (e.g. aspirin). Patient education and trauma prevention ensure a good prognosis for people with BSS.