Bernard Soulier Syndrome

Bernard Soulier syndrome, also called hemorrhagiparic thrombocytic dystrophy, is an extremely rare hemorrhagic disease bleeding disorder characterized clinically by prolonged bleeding time. It associates a quantitative defect (thrombocytopenia) and a qualitative defect (thrombopathies) of the platelets.

The causes of Bernard-Soulier syndrome

Bernard-Soulier syndrome is a disease of the blood platelets that prevent them from adhering to the site of a vascular injury that causes bleeding. The abnormality is also responsible for a defect in platelet production causing thrombocytopenia;

This disease is caused by a genetic defect that can affect two genes. These genes code for two proteins linked together and present on the surface of platelets: this protein complex is called glycoprotein 1b / IX / V (for simplicity, it is also called platelet receptor of von Willebrand factor). When this receptor is absent or not working properly, platelets fail to adhere to the surface of the blood vessel at the site of the vascular injury and are poorly produced.

The mode of transmission of Bernard-Soulier syndrome is autosomal recessive, which means that the patient carries two copies of the mutated gene, inherited in the majority of cases from his parents. Both parents must be carriers of one copy of the defective gene. (even if they do not have the disease) to pass it on to their child. Like all disorders transmitted this way, it is more prevalent in areas of the world where marriage between close relatives is common. Bernard Soulier syndrome affects both men and women.

Symptoms of Bernard Soulier syndrome

People with Bernard-Soulier syndrome usually show signs of mucocutaneous hemorrhage during their first year of life. Here are the main symptoms:

• Purpura (blue just under the skin)
• Nosebleed (epistaxis)
• Bleeding gums (gingivorrhagia)
• Heavy periods (menorrhagia)
• Gastrointestinal bleeding and bleeding from the urinary tract (in rare cases)

The symptoms of Bernard Soulier’s disease are variable and depend on the intensity of the deficit and the patient’s exposure to risky situations such as trauma and surgery. We think in particular of bleeding following a bite of the tongue or a breakthrough of teeth in children.

Menorrhagia (heavy menstrual bleeding) is a major bleeding problem in women after puberty.

The diagnosis and treatment of Bernard Soulier syndrome

The diagnosis is based on the presence of a decreased platelet count associated with giant platelets, a lack of ristocetin-induced platelet agglutination, and reduced or no expression of the GPIb-V-IX complex on the surface of the platelets. to be maintained is based on the establishment of follow-up in a center specializing in hemostasis and platelet diseases. This one will establish the diagnosis, will deliver the information on the disease (transmission…) and on all the gestures useful to the control of the hemorrhagic risk on a daily basis (drugs contraindicated, vaccinations, dental care, sporting activity, travel…). A care card will be drawn up with the diagnosis, the treatments recommended in the event of bleeding, the name and contact details of the referring doctor.

The treatment will depend on the context (emergency or not) and the severity of the bleeding. Local maneuvers (prolonged compression on the bleeding lesion, wicking in case of epistaxis) and administration of antifibrinolytics may be sufficient. Stopping heavy bleeding and surgical prophylaxis are most often provided by platelet transfusion. The prognosis is generally good with appropriate treatment.

Sources: PinterPandai, Genetics Home Reference, Rare Diseases, PubMed, Science Direct, Novo Nordisk