Hereditary/Acquired Bleeding Disorders

A team of researchers from Hospital de São José, Lisbon, Portugal, reports the case of a 68-year-old man diagnosed with von Willebrand disease 3 decades earlier who presented with gastrointestinal bleeding, anemia, and severe thrombocytopenia but whose hemorrhaging was not stopped by replacement with von Willebrand factor, suggesting that his bleeding had a different etiology. Corticosteroids and IVIG were also ineffective. Genetic sequencing showed a homozygous mutation in the GP1BA gene, establishing the diagnosis of Bernard Soulier syndrome. VWD and immune thrombocytopenia are among several differential diagnoses in patients with Bernard Soulier syndrome.