Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease

Abstract

MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism.