Familial occurrence of the May-Hegglin anomaly: is the accompanying renal failure part of a new subentity?

We present two cases of the May-Hegglin anomaly discovered in a patient and one of her two sons. The female patient was known to have proteinuria from the age of 14 and was hospitalized in 1980, at the age of 25 years, becaus e of hypertension and proteinuria (1.5 g/day). Thrombocytopenia was found w ith an abundance of megakaryocytes in the bone marrow. Both steroid treatme nt and splenectomy failed to ameliorate the thrombocytopenia, thought to be due to idiopathic thrombocytopenic purpura. Progressive renal failure, sec ondary hyperparathyroidism and uremic osteodystrophy were diagnosed in 1995 . In January 1996, when she was hospitalized because of high-grade fever, w e saw giant platelets and prominent blue inclusion bodies in almost all gra nulocytes in the peripheral blood smear. Electron microscopy confirmed the diagnosis of May-Hegglin anomaly in this patient and one of her sons, who a t that time showed thrombocytopenia but no renal disease. Three years later , however. at the age of 15, the affected son was found to develop proteinu ria. Coexpression of the May-Hegglin anomaly and renal disease, reported pr eviously in a few other patients, may in fact represent a new subentity.