BernardSoulier

BernardSoulier, typically rendered in medical literature as Bernard-Soulier syndrome, refers to a rare inherited bleeding disorder caused by defects in the platelet GPIb-IX-V receptor complex. The name honors the clinicians who first described the condition and is used interchangeably with the hyphenated form in many sources.

Pathophysiology and genetics: BernardSoulier syndrome is inherited in an autosomal recessive pattern. It results from mutations in the platelet surface genes GP1BA, GP1BB, or GP9, which encode components of the GPIb-IX-V complex. The defective receptor impairs platelet adhesion to von Willebrand factor, leading to defective platelet plug formation. Patients typically exhibit thrombocytopenia and abnormally large platelets (macrothrombocytes).

Clinical features and diagnosis: Individuals often present with mucocutaneous bleeding such as frequent nosebleeds, gum bleeding, easy bruising, and excessive bleeding after dental procedures or trauma. Laboratory findings include thrombocytopenia with enlarged platelets on a peripheral smear, prolonged bleeding time, and reduced platelet aggregation in response to ristocetin that does not correct with normal plasma. Flow cytometry showing diminished or absent GPIb-IX-V on platelets, together with genetic testing confirming pathogenic variants, supports the diagnosis.

Management and prognosis: There is no cure for BernardSoulier syndrome. Management focuses on bleeding control and prevention, with antifibrinolytics (for example, tranexamic acid) used for mucosal bleeding and platelet transfusions reserved for major hemorrhage or surgery. Patients are advised to avoid medications that impair platelet function, such as NSAIDs. Prognosis varies with bleeding severity and access to appropriate medical care.

Notes: The term BernardSoulier is most often a variant spelling of Bernard-Soulier syndrome. If used to denote a person or entity, additional context would be required.