Disease Awareness

An Insight into Bernard-Soulier Syndrome

December 26th, 2018 - One Comment

Many discoveries in medical science happened by chance. In the middle of the twentieth century, two French haematologists, Jean Bernard and Jean-Pierre Soulier, diagnosed a young male patient who had a severe bleeding defect with a prolonged bleeding time and whose older sister had haemorrhaged to death. They were surprised by the giant size of the platelets and their deficiency (a combination known as macrothrombocytopenia) when they saw a picture of his blood. They named the disorder ‘Dystrophie thrombocytaire-hémor-ragipare congenital’, which is currently called Bernard-Soulier Syndrome (BSS).

What is the Bernard-Soulier Syndrome?
Bernard-Soulier Syndrome is an inherited disorder of blood coagulation. Individuals with this disease are characterized by a prolonged bleeding time, low platelet counts, and large platelets. It is one of the giant platelet syndromes where platelets lack the ability to stick adequately to the injured blood-vessel walls causing excessive bleeding.

How is the disease inherited?
This syndrome is extremely rare with a prevalence of less than 1/1,000,000. It is inherited as an autosomal recessive disorder and causes defect in the glycoprotein (GP) Ib-IX-V found on the surface of platelets, and which plays an important role in blood clotting.

How is it similar to Glanzmann Thrombasthenia (GT)?
Glanzmann thrombasthenia is also an autosomal recessive platelet function disorder like Bernard-Soulier Syndrome. It is caused by an abnormality of glycoproteins IIb/IIIa in the genes. These genes are important for some structural proteins found on the surface of platelets. They also act as a receptor. An absence of these receptors leads to improper functioning of the platelets where they do not stick to each other at the site of the injury, which impairs normal blood clotting. It affects both males and females, and occurs commonly in consanguineous marriage. The signs of GT are commonly noticed first during childhood. These symptoms vary from individual to individual and may range from very mild to potentially life-threatening bleeding. The common symptoms are frequent or easy bruising, bleeding from the nose and gums, and heavy or prolonged menstrual bleeding. It is diagnosed based on the prolonged bleeding time, clotting time, and platelet aggregation time with the flow cytometry. It is mainly treated with antifibrinolytic drugs, recombinant factor VIIa, fibrin sealants, hormonal, iron replacement, and platelet transfusions.

What are the signs and symptoms?
The major signs and symptoms of this disorder are:
• Perioperative (and postoperative bleeding);
• Bleeding gums
• Bruising
• Epistaxis (nosebleeds)
• Abnormal bleeding (from small injuries)
• Unusual menstrual periods

How is BSS diagnosed?
Patients are often diagnosed with BSS after seeking medical attention following prolonged or recurring bleeding episodes. Infants are diagnosed when excessive bleeding occurs after circumcision. In some individuals, it is diagnosed after excessive bleeding after trauma or tooth extraction. BSS ultimately needs a specialized laboratory diagnosis which involves platelet aggregation studies (testing for the ‘stickiness’ of platelets) and flow cytometry to confirm the suspicion of the disease.

What is the differential diagnosis of BSS?
It includes both Glanzmann thrombasthenia and paediatric Von Willebrand disease.

How is this disease managed?
Therapeutic approaches include both general and specific treatment of bleeding. The management of bleeding or prior prophylaxis during invasive procedures usually requires blood or platelet infusion though it has an associated risk of developing antiplatelet alloantibodies. Desmopressin and rFVIIa administration lessen the bleeding time in some patients. In some rare cases of patients with life-threatening disorders, umbilical-cord hematopoietic stem cell transplantation or bone-marrow may be considered. In the future, the genetic defect in BSS can be managed by gene replacement therapy using virally transduced megakaryocyte progenitors.
How can the disease be prevented?
• Avoid drugs which interfere with blood coagulation like Aspirin or any Non-Steroidal Anti-Inflammatory Drugs (NSAIDS) such as Ibuprofen.
• Inform health care professionals if you are diagnosed with BSS so that they can weigh the risks and benefits associated with certain medications and procedures such as biopsies.
• Always wear personal protective measure during physical activities such as riding a bicycle or skiing. Avoid full-contact sports (e.g. boxing, football, and hockey) as they are generally associated with higher risk of injuries causing bleeding.
• Always check with your Haemophilia treatment center before taking any new drugs, vitamins, or herbal products sold without a drug identification number.

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