What is Bernard-Soulier syndrome?

From the Guidelines

Bernard-Soulier syndrome is a rare inherited bleeding disorder characterized by abnormally large platelets and thrombocytopenia, as noted in a recent study 1.

Definition and Characteristics

It occurs due to mutations in genes encoding the glycoprotein Ib-IX-V complex on platelet surfaces, which is essential for platelet adhesion to damaged blood vessels. Patients typically present with easy bruising, nosebleeds, gum bleeding, heavy menstrual periods, and prolonged bleeding after injury or surgery.

Diagnosis and Treatment

Diagnosis involves blood tests showing giant platelets, low platelet counts, and abnormal platelet function tests, particularly with ristocetin. Treatment is primarily supportive, focusing on preventing and controlling bleeding episodes. This includes avoiding medications that affect platelet function (like aspirin), using local measures for minor bleeding, and administering platelet transfusions for severe bleeding or before surgical procedures. Hormonal therapy may help manage heavy menstrual bleeding in women. Some key points to consider in the diagnosis and management of Bernard-Soulier syndrome include:

• The use of flow cytometry to detect reduced glycoprotein expression on platelets, as suggested by a study on inherited platelet function disorders 1.
• The importance of consulting a pediatric hematologist for accurate diagnosis and management, as noted in a study on evaluation for bleeding disorders in suspected child abuse 1.
• The need for patients to wear medical alert identification and inform healthcare providers about their condition before any procedures.

Inheritance Pattern

The syndrome follows an autosomal recessive inheritance pattern, meaning both parents must carry the defective gene for a child to develop the condition. Some key considerations in the management of Bernard-Soulier syndrome include:

• The need for regular monitoring of platelet counts and function to prevent and manage bleeding episodes.
• The importance of avoiding medications that affect platelet function and using local measures for minor bleeding.
• The potential use of hormonal therapy to manage heavy menstrual bleeding in women.

From the Research

Definition and Characteristics of Bernard-Soulier Syndrome

• Bernard-Soulier syndrome (BSS) is a rare congenital platelet disorder characterized by defective platelet adhesion and manifested by spontaneous and often profuse bleeding 2.
• It is a rare inherited bleeding disorder characterized by giant platelets thrombocytopenia, prolonged bleeding time, and frequent hemorrhages with considerable morbidity 3.
• BSS is an autosomal recessive inherited bleeding disorder characterized by prolonged bleeding time, thrombocytopenia, and giant platelets 4.

Clinical Manifestations and Diagnosis

• The diagnosis of BSS is confirmed by macrothrombocytopenia, absence of ristocetin-induced platelet agglutination (RIPA), and absence of glycoprotein (GP) Ibalpha and IX on the platelet surface 2.
• Patients with BSS may experience spontaneous and often profuse bleeding, including epistaxis, menorrhagia, and postoperative bleeding 2, 3, 5.
• The syndrome is characterized by a lack of RIPA and severe deficiency of GPIbalpha on the platelet surface 3.

Management and Treatment

• Recombinant factor VIIa (rFVIIa) is a haemostatic agent that may be used to treat severe bleeding episodes in patients with BSS 2, 3, 4.
• Platelet transfusions may be used to manage bleeding in patients with BSS, but may not always be effective 3, 5, 4.
• A combined strategy involving antifibrinolytics, recombinant factor VII, and platelet transfusions may be effective in managing bleeding in patients with BSS 4.
• Perioperative management of patients with BSS may require a multidisciplinary approach with adequate preparation, including preoperative and intraoperative systemic aminocaproic acid, HLA-matched platelets, and topical gelfoam and thrombin 5.