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Bernard-Soulier Syndrome (BSS)

Bernard-Soulier Syndrome (BSS) is a rare inherited platelet function disorder caused by a defect in the platelet GPIb-IX-V receptor complex. This impairs platelet adhesion to von Willebrand factor and causes mucocutaneous bleeding, thrombocytopenia, and unusually large platelets

Also called

Bernard-Soulier Disease

ICD-10

D69.1

Specialty

Hematology

Onset

Chronic

Reviewed

August 2026

On This Page

Overview

Bernard-Soulier Syndrome (BSS) is an inherited platelet adhesion disorder caused by deficiency or dysfunction of the GPIb-IX-V receptor. This receptor normally allows platelets to bind to von Willebrand factor at sites of vascular injury. Patients typically have lifelong mucocutaneous bleeding, thrombocytopenia, and giant platelets

Etiology & Risk Factors

-Etiology

Bernard-Soulier Syndrome (BSS) is caused by mutations affecting components of the platelet GPIb-IX-V receptor complex, which is essential for platelet adhesion.

The main genes involved are:

  • GP1BA

  • GP1BB

  • GP9

Gene mutation → defective or absent GPIb-IX-V receptor → impaired platelet binding to von Willebrand factor → defective platelet adhesion → prolonged bleeding.

Inheritance

  • Usually autosomal recessive

  • Both parents are typically unaffected carriers

  • Disease occurs when a child inherits pathogenic variants from both parents

-Risk Factors 

  • Positive family history

  • Consanguinity

  • Previous affected siblings

  • Family history of unexplained bleeding

Pathophysiology

GPIb-IX-V receptor defect → impaired platelet binding to von Willebrand factor → defective platelet adhesion to damaged vascular endothelium → impaired primary hemostasis → prolonged mucocutaneous bleeding → thrombocytopenia and formation of unusually large platelets.

Clinical Presentation

-Symptoms

  • Easy bruising

  • Recurrent epistaxis

  • Gum bleeding

  • Heavy menstrual bleeding

  • Prolonged bleeding after dental procedures

  • Prolonged bleeding after surgery

  • Prolonged bleeding after minor trauma

-Signs

  • Petechiae

  • Purpura

  • Ecchymoses

  • Mucosal bleeding

  • Pallor if chronic blood loss causes anemia

-Severe Disease

Severe cases may develop:

  • Gastrointestinal bleeding

  • Significant postoperative bleeding

  • Severe menstrual bleeding

  • Rarely, serious internal bleeding

History Taking

-Ask about:

  • Recurrent epistaxis
  • Gum bleeding
  • Easy bruising
  • Heavy menstrual bleeding
  • Prolonged bleeding after dental procedures
  • Previous surgical bleeding
  • Bleeding after minor trauma
  • Gastrointestinal bleeding
  • Previous blood transfusions
  • Family history
  • Consanguinity
  • Previous platelet transfusions
  • Previous diagnosis of a platelet disorder

Physical Examination

-General Examination

Look for:

  • Pallor

  • Signs of anemia

  • Easy bruising

-Skin Examination

Assess for:

  • Petechiae

  • Purpura

  • Ecchymoses

-Oral Examination

Look for:

  • Gingival bleeding

  • Mucosal bleeding

-Nasal Examination

Look for:

  • Evidence of recurrent epistaxis

Investigations

-Complete Blood Count

Typical findings:

  • Thrombocytopenia

  • Hemoglobin may be reduced due to chronic blood loss

  • Large or giant platelets

-Peripheral Blood Film

Characteristic findings:

  • Giant platelets

  • Reduced platelet number

  • Abnormal platelet morphology

PT

Usually: Normal

aPTT

Usually: Normal

-Platelet Function Testing

Shows impaired platelet aggregation and adhesion.

Ristocetin-Induced Platelet Agglutination

Typically:

Reduced or absent response to ristocetin

Importantly, the abnormal response does not correct with normal plasma, helping distinguish Bernard-Soulier Syndrome (BSS) from von Willebrand Disease.

-Flow Cytometry

Demonstrates reduced or absent expression of the:

GPIb-IX-V receptor complex

This is an important confirmatory investigation.

-Genetic Testing

Can identify mutations in:

  • GP1BA

  • GP1BB

  • GP9

-Useful for:

  • Confirmation

  • Family screening

  • Genetic counseling

Diagnosis

Diagnosis is based on:

  • Lifelong mucocutaneous bleeding
  • Thrombocytopenia
  • Giant platelets
  • Abnormal platelet function
  • Reduced or absent ristocetin-induced platelet agglutination
  • Reduced GPIb-IX-V expression on flow cytometry
  • Genetic confirmation when required
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Management

1. Local Hemostatic Measures

For minor bleeding:

  • Direct pressure

  • Local hemostatic agents

  • Tranexamic acid

2. Antifibrinolytic Therapy

Tranexamic acid can be useful for:

  • Mucosal bleeding

  • Dental procedures

  • Menstrual bleeding

3. Platelet Transfusion

Used for:

  • Severe bleeding

  • Major surgery

  • Life-threatening hemorrhage

Platelet transfusion should be used carefully because repeated exposure can lead to alloimmunization.

4. Recombinant Factor VIIa

May be considered in selected patients with:

  • Severe bleeding

  • Platelet transfusion refractoriness

  • Significant anti-platelet antibodies

5. Iron Replacement

Treat iron deficiency caused by chronic blood loss.

6. Avoid Drugs That Impair Platelet Function

Avoid when possible:

  • Aspirin

  • NSAIDs

  • Other antiplatelet medications

Complications

  • Recurrent mucosal bleeding
  • Iron deficiency anemia
  • Severe postoperative bleeding
  • Heavy menstrual bleeding
  • Gastrointestinal bleeding
  • Pregnancy-related bleeding
  • Platelet transfusion alloimmunization
  • Platelet transfusion refractoriness

Prognosis

Bernard-Soulier Syndrome (BSS) is a lifelong bleeding disorder. Severity varies between patients. With appropriate bleeding prevention, prompt treatment, and specialist management, most patients can maintain a good quality of life.

Key Points / Clinical Pearls

  • Bernard-Soulier Syndrome (BSS) is a rare inherited platelet disorder.
  • Usually inherited as autosomal recessive.
  • It is caused by defects in the GPIb-IX-V receptor complex.
  • The receptor is important for platelet adhesion to von Willebrand factor.
  • Typical findings are thrombocytopenia + giant platelets.
  • PT and aPTT are usually normal.
  • Ristocetin-induced platelet agglutination is reduced or absent.
  • Flow cytometry can demonstrate reduced GPIb-IX-V expression.
  • Bleeding is predominantly mucocutaneous.
  • Tranexamic acid is useful for mucosal bleeding.
  • Platelet transfusion is used for significant bleeding or major procedures.
  • Repeated platelet transfusions can cause alloimmunization.
  • Podda GM, Seligsohn U. National Center for Biotechnology Information (NIH). Bernard-Soulier Syndrome . GeneReviews.
  • López JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier Syndrome. Blood. 1998;91(12):4397-4418. Blood .
  • Nurden AT. Glanzmann Thrombasthenia, Bernard-Soulier Syndrome, and Other Inherited Disorders of Platelet Function. In: Williams Hematology.
  • Gresele P, Harrison P, Bury L, et al. Diagnosis of Inherited Platelet Function Disorders: Guidance from the SSC of the ISTH. J Thromb Haemost. 2015;13(2):314-322.
  • National Organization for Rare Disorders (NORD). Bernard-Soulier Syndrome .