DOI: https://doi.org/10.36347/sjmcr.2024.v12i11.029

Pages: 1962-1966

May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder characterized by the presence of large, abnormally shaped platelets (macrothrombocytes), thrombocytopenia, and distinctive leukocyte inclusions known as Döhle-like bodies. First described by the German physician Heinrich May in 1909 and further characterized by Swiss hematologist Otto Hegglin in 1945, MHA is part of a group of disorders collectively referred to as the MYH9-related diseases, which also include Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. A 41-year-old male presents with a 10-year history of thrombocytopenia and a recent development of bilateral cataracts over the past three years. The patient reports that the thrombocytopenia has been resistant to corticosteroid treatment. He has experienced occasional episodes of mild bleeding, including easy bruising, epistaxis, and petechiae, but no severe hemorrhagic events. He denies any history of significant trauma, surgeries, or other major medical conditions. There is no known family history of similar hematological or ophthalmological issues. One of the primary ophthalmological concerns in MHA is the increased risk of retinal hemorrhages. Thrombocytopenia, a hallmark of MHA, predisposes patients to bleeding complications due to insufficient platelet numbers [3, 4]. The retinal vasculature, being highly sensitive to changes in hemostasis, is particularly vulnerable. Retinal hemorrhages can manifest as dot-blot hemorrhages or more extensive preretinal hemorrhages, potentially leading to vision impairment. Regular ophthalmologic examinations are crucial for early detection and management of these hemorrhages to prevent permanent vision loss. This case underscores the importance of considering MYH9-related disorders in patients presenting with thrombocytopenia resistant to standard treatments and associated with atypical clinical features, such as cataracts and leukocyte inclusions. Comprehensive diagnostic evaluations, ...