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Medical Author:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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In this Article

• What is Bernard-Soulier syndrome?
• What are the symptoms and signs of Bernard-Soulier syndrome?
• What is the cause of Bernard-Soulier Syndrome?
• How is Bernard-Soulier syndrome diagnosed?
• What is the treatment for Bernard-Soulier syndrome?
• Is there a cure for Bernard-Soulier syndrome?
• Find a local Pediatrician in your town
• Bernard-Soulier Disease Index

Patients are often diagnosed with B-SS after seeking medical attention following prolonged or reoccurring 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 giant platelet disorders (such as von Willebrand disease and immune thrombocytopenia purpura), since the treatments and management might differ.

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.

Currently there is no cure for B-SS; however researchers are studying the efficacy of bone-marrow transplantation and have had some success in treating the syndrome in several severely affected patients.