BernardSouliersjúkdómurinn

Bernard-Soulier syndrome (BSS) is a rare, inherited bleeding disorder characterized by a deficiency of glycoprotein Ib (GPIb) on the surface of platelets. This glycoprotein plays a critical role in platelet adhesion to the vessel wall, particularly at sites of vascular injury. As a result, individuals with BSS experience prolonged bleeding times and an increased susceptibility to spontaneous or traumatic hemorrhage.

The condition is named after the French hematologists Bernard and Soulier, who first described it in the 1950s. Bernard-Soulier syndrome is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two mutated copies of the responsible gene—one from each parent—to develop the disorder. The primary genetic defect in BSS involves mutations in the *GPIBA*, *GPIBB*, or *GP1BB* genes, which encode components of the GPIb-IX-V complex essential for platelet function.

Clinical manifestations of Bernard-Soulier syndrome typically include mucocutaneous bleeding, such as prolonged bleeding from minor cuts, nosebleeds, or excessive menstrual bleeding. Severe cases may present with life-threatening hemorrhages, including intracranial bleeding. Laboratory findings often reveal large, abnormal platelets (macrocytosis) and a markedly reduced platelet count (thrombocytopenia), though the bleeding time is disproportionately prolonged relative to the platelet count.

Diagnosis is confirmed through flow cytometry, which detects the absence or significant reduction of GPIb on platelet surfaces. Treatment focuses on managing bleeding episodes, often through platelet transfusions or desmopressin (DDAVP), though these measures may be less effective due to the underlying platelet dysfunction. Long-term management may include prophylactic interventions to prevent recurrent bleeding, particularly in high-risk patients.

Bernard-Soulier syndrome is distinct from other inherited platelet disorders, such as Glanzmann thrombasthenia, which involves defects in platelet aggregation rather than adhesion. While rare, awareness of the condition is important for accurate diagnosis and appropriate management of bleeding disorders. Genetic counseling is recommended for affected families to assess recurrence risks in future pregnancies.