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Bernard-Soulier Disease (cont.)

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How is Bernard-Soulier syndrome diagnosed?

Patients are often diagnosed with B-SS after seeking medical attention following prolonged or recurring bleeding episodes. Some infants are diagnosed after excessive bleeding following circumcision. Other children and adults may be diagnosed after bleeding excessively following trauma or tooth extraction. Very frequently there is a history of another family member with similar symptoms, and the physician evaluating the patient will often document a detailed family history to assist in the diagnosis. B-SS ultimately is a laboratory diagnosis and usually requires a specialized laboratory to confirm the suspicion of the disease and involves platelet aggregation studies (testing for the "stickiness" of platelets) and flow cytometry. It is important to distinguish this syndrome from other platelet disorders (such as von Willebrand disease and immune thrombocytopenia purpura), since the treatments and management differ.

What is the treatment for Bernard-Soulier syndrome?

There is no specific treatment for Bernard-Soulier syndrome. Patients should avoid any drugs which may interfere with clot formation, such as aspirin, ibuprofen, and naproxen. Severe bleeding episodes may require platelet and blood transfusions. Recombinant clotting factors and a coagulation drug known as DDAVP may also be of short-term benefit in selected patients. Affected individuals should avoid participation in contact sports. Iron supplements are often recommended to patients with the disease to help minimize the anemia often observed in patients with frequent blood loss.

Medically Reviewed by a Doctor on 9/13/2016


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