eMedicine Specialties > Pediatrics: General Medicine > Hematology
Bernard-Soulier Syndrome
Updated: Jun 30, 2009
Introduction
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.
Clinical
History
Symptoms of Bernard-Soulier syndrome (BSS) are consistent with low or dysfunctional platelets and include easy bruising, nosebleeds, mucosal bleeding, menorrhagia, and, occasionally, GI bleeding. The severity of symptoms may widely vary.
Physical
The physical examination findings are consistent with low or dysfunctional platelets and may include increased bruising and mucosal bleeding.
Causes
Bernard-Soulier syndrome is inherited in an autosomal recessive fashion; thus, males and females are affected with equal frequency. Heterozygotes usually have no bleeding manifestations.
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References
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Poon MC, d'Oiron R. Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. Blood Coagul Fibrinolysis. Apr 2000;11 Suppl 1:S55-68. [Medline].
Tefre KL, Ingerslev J, Sorensen B. Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome. Haemophilia. Jan 2009;15(1):281-4. [Medline].
Watanabe R, Ishibashi T, Saitoh Y, et al. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. Blood Coagul Fibrinolysis. Jun 2003;14(4):387-94. [Medline].
Zieger B, Jenny A, Tsakiris DA, et al. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. Hamostaseologie. May 2009;29(2):161-7. [Medline].
Further Reading
Keywords
Bernard-Soulier syndrome, BSS, hereditary platelet disorder, bleeding disorder, coagulation disorder, giant platelets, thrombocytopenia, bleeding tendency, May-Hegglin anomaly, gray platelet syndrome, von Willebrand factor, vWF, treatment, diagnosis
