A rare familial thrombocytopenia: May-Hegglin anomaly report of two cases and review of the literature.

Abstract

May-Hegglin anomaly is a hereditary thrombocytopenia associated with giant platelets and large basophilic, cytoplasmic inclusion bodies (resembling Döhle bodies) in the granulocytes. Patients may experience easy bruising, recurrent epistaxis, gingival bleeding, menorrhagia and sometimes excessive bleeding associated with surgical procedures. Failure to appropriately diagnose May-Hegglin anomaly could result in inappropriate treatment. In states of chronic thrombocytopenia associated with large platelets, including chronic idiopathic thrombocytopenic purpura, May-Hegglin anomaly should be considered in the differential diagnosis. In this case report, we present a five-year-old girl previously followed as idiopathic thrombocytopenic purpura without bleeding symptoms and a 14-year-old boy who were diagnosed with May-Hegglin anomaly.