Bernard-Soulier Syndrome

Author: John D Geil, MD; Chief Editor: Robert J Arceci, MD, PhD more...

Updated: Jun 30, 2009

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Background
Pathophysiology
Epidemiology
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Background

Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. The disorder was recognized to be familial and inherited in an autosomal recessive manner. In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein. Bernard-Soulier syndrome is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and a tendency toward bleeding. Other disorders in this category are the May-Hegglin anomaly and gray platelet syndrome.

Peripheral smear of a patient with Bernard-Soulier syndrome (BSS) showing giant platelets. These platelets are not counted as platelets in most particle counters.

Pathophysiology

The underlying biochemical defect is the absence or decreased expression of the glycoprotein Ib/IX/V complex on the surface of the platelets.^[1]This complex is the receptor for von Willebrand factor (vWF), and the result of decreased expression is deficient binding of vWF to the platelet membrane at sites of vascular injury, resulting in defective platelet adhesion. This is demonstrated by the lack of aggregation of platelets in response to ristocetin, an antibiotic that normally causes platelets to aggregate. The end result is the lack of formation of the primary platelet plug and increased bleeding tendency. The cause of the thrombocytopenia is not definitely known, but it is probably related to a decreased platelet life span.

Frequency

United States

This syndrome is rare, with an estimated occurrence of less than 1 case per million population.

Mortality/Morbidity

The severity of bleeding tendency varies. Bleeding can be severe with injury or surgery.

Race

Bernard-Soulier syndrome is a rare disorder described primarily in whites of European ancestry, as well as in the Japanese population. However, prevalence in other ethnic groups is unknown.

Sex

Males and females are affected with equal frequency.

Age

Bleeding due to Bernard-Soulier syndrome may begin in infancy and may continue with varying severity throughout life.

Proceed to Clinical Presentation

Contributor Information and Disclosures

Author

John D Geil, MD Associate Professor of Pediatrics, Division of Hematology/Oncology, University of Kentucky College of Medicine; Consulting Staff, Department of Pediatric Hematology/Oncology, University of Kentucky Children's Hospital

John D Geil, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Society for Neuro-Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Gary R Jones, MD Associate Medical Director, Clinical Development, Berlex Laboratories

Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine

Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Gary D Crouch, MD Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Associate Professor, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology

Disclosure: Nothing to disclose.

David Pallares, MD Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

References

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