Bernard-Soulier Syndrome

Estimated to be <1 in 1 million persons, but may be higher due to misdiagnosis and underreporting

Rare: Approximately 100 cases reported in literature

Severe hemorrhage out of proportion to plt count

Transfusion reactions

Severe periop hemorrhage

Limited availability of blood products

Concurrent medical conditions (e.g., uremia, liver disease) or medications (NSAIDs, heparin, and antiplatelet agents) contributing to bleeding

Coagulopathy characterized by defects in plt number and function due to an absence or abnormality in plt membrane glycoprotein receptor complex GPIb-IX-V, a four-protein complex responsible for initiating plt adhesion at sites of vascular injury and binding Von Willebrand factor

Defect in primary hemostasis; mucocutaneous bleeding; often, the bleeding is more severe than expected for the pt’s particular plt count

Clinical phenotype severity varies; manifestations range from easy bruising, purpura, epistaxis, gingival bleeding, and menorrhagia to hematuria, GI bleeding, and fatal hemorrhage

Severe bleeding associated with menses, trauma, and certain surgical procedures (e.g., tonsillectomy, appendectomy, splenectomy, dental extraction)

Diagnosed by prolonged bleeding time, presence of a small number of very large plt on blood smears (macrothrombocytopenia), reduced plt counts (20,000–100,000), and absence of RIPA

Autosomal recessive inheritance pattern; a wide spectrum of clinical manifestation based on the degree of glycoprotein complex dysfunction.

Individual genes have been identified for each of the proteins in the complex and may be the target for future therapy: 17p12 (GPIba), 22q11.2 (GPIbb), 3q29 (GPV), and 3q21 (GPIX).