May-Hegglin Anomaly: A Rare Cause of Thrombocytopenia and Potentially Overlooked

Abstract

May-Hegglin Anomaly is a rare congenital platelet disorder with macrothrombocytopenia and leucocytes inclusions. We report a 25-year-old primigravida Malay woman with asymptomatic severe thrombocytopenia and strong family history of thrombocytopenia. Blood film showed the presence of many giant platelets with inclusion bodies in the neutrophils. Initially, she was treated as immune-mediated thrombocytopenia. However, the platelet count was not responding to corticosteroid therapy. This case report highlighted the rare cause of thrombocytopenia due to congenital cause in a young Malay ethnic primigravida woman who was asymptomatic for bleeding manifestation. This case also emphasized the importance of detailed family history and a proper evaluation of peripheral blood smear as a key for establishing the diagnosis as well as multidisciplinary approaches in treating the patient. Hence, this rare cause of thrombocytopenia would not be overlooked.