Hematology

Bernard Soulier syndrome

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Bernard Soulier syndrome
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Fernando Martínez Sáez
Medically reviewed by our Medical staff

Last update: 05-04-2022

How else can it be called?

  • Giant platelet syndrome

  • Hemorrhagiparous thrombocytic dystrophy

  • CIE-10: D69.1

What is Bernard Soulier syndrome?

Bernard Soulier syndrome (BSS) is a hereditary disorder characterized by giant blood platelets, a low platelet count and bleeding tendency.

What are the main causes?

It is a genetic disease due to a deficiency or dysfunction of the glycoprotein GPIb-V-IX complex related to mutations on chromosome GPIBA (17p12), GPIBB (22q11.2), GP5 (3q29) or GP9 (3q21).

It is a hereditary syndrome transmitted with an autosomal recessive pattern, where both genes, one from each parent, must be mutated to suffer the disorder.

What incidence does it have?

Bernard Soulier syndrome (BSS) is extremely rare with an estimated incidence of 1 case per 1 million people.

What are the main symptoms of Bernard Soulier syndrome?

People affected with Bernard Soulier syndrome (BSS) tend to bleed and bruise excessively. The most common bleeding occurs in:

  • Nosebleeds (epistaxis)
  • Bleeding gums
  • Heavy menstrual bleeding (Menorrhagia)
  • Gastrointestinal bleeding

It is also common the presence of small tiny red or purple colored spots under the skin (purpura or petechiae).

How can it be diagnosed?

In a blood test, people suffering the disorder, usually show macrothrombocytopenia characterized by:

  • Low platelet count: The platelet count is usually between 20 to 100 x 103 platelets /ul (thrombocytopenia).
  • Giant platelets: MPV (Mean Platelet Volume) is usually above 18 fl.

There is also a defective ristocetin-induced platelet aggregation (RIPA). Ristocetin-induced platelet aggregation is absent in Bernard-Soulier syndrome

What is the recommended treatment?

In general, no medication is needed in Bernard-Soulier syndrome.

Only in case of severe hemorrhage, platelet transfusion is recommended. Too many transfusions may develop antiplatelet antibodies.

People with mild BSS can sometimes be treated with Desmopressin (DDAVP) or Recombinant Factor VIIa (rVIIa, NovoSeven®) to prevent acute bleeds.

What is the prognosis of Bernard Soulier syndrome?

The prognosis is good and people with BSS may follow a normal life. They may need prophylaxis during surgical procedures (platelet transfusion).

Patients should be warned to avoid traumas, anticoagulants and antiplatelet medication, such as aspirin, that reduce the ability of the blood to clot.

Medically reviewed by our Medical staff on 05-04-2022

Bibliography

  • Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy). François Lanza. Orphanet Journal of Rare Diseases, 2006. Available on: https://ojrd.biomedcentral.com
  • Berndt, M. C., & Andrews, R. K. (2011). Bernard-Soulier syndrome. Haematologica, 96(3), 355–359. Available on: https://doi.org

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