I DON’T WANT TO SEE A DOCTOR; THEY FREAK OUT LOOKING AT MY LABS: A CASE OF MAY-HEGGLIN SYNDROME S. Jiwani MD, S. Guntupalli MD, R. P. Mansour MD Department of Internal Medicine, LSU-Health Sciences Center, Shreveport, LA. INTRODUCTION: May-Hegglin syndrome is a rare hereditary macro-thrombocytopenia caused by mutation of the MYH-9 gene encoding the heavy chain A of non-muscle myosin class II. We present a case that emphasizes the importance of awareness of rare disorders that could potentially avoid over-investigation in these benign conditions. CASE: 72-year-oldwomanwithhypertension, chronic kidney disease Stage 3, hiatal hernia, tobacco use presented for preoperative evaluation for cataract extraction. She was noted to have significant thrombocytopenia of 3K/µL along with elevated BUN and creatinine. She was emergently admitted for further evaluation. She denied any symptoms except for a prolonged history of easy bruising. Physical exam was unremarkable. She mentioned that her platelet count has always been low (<50K/µL) and refused to see physicians due to their anxiety about her abnormal labs. She was previously investigated for thrombocytopenia and had multiple diagnostic as well as therapeutic interventions including bone marrow biopsies, steroids, intravenous immunoglobulins without improvement. Her family history was consistent with low platelet counts for at least 3 generations. Repeat laboratory testing revealed an improved platelet count of 43 K/µL with elevated mean platelet volume (MPV). Peripheral blood smear showed large platelets, normal red and white blood cells without inclusion bodies. After carefully reviewing her history and laboratory findings, it was suspected that the patient may have a familial thrombocytopenia. Further genetic testing revealed an inherited MYH-9 mutation that is autosomal dominant. DISCUSSION: MYH-9 related disorders are characterized by macro-thrombocytopenia (due to premature release of platelets), often associated with glomerulonephritis, sensorineural deafness, cataracts and cytoplasmic inclusion bodies within leukocytes. Management is mainly conservative and directed towards prevention of iron deficiency anemia in young females. Use of desmopressin, in combination with tranexamic acid, is recommended in perioperative setting. Our case emphasizes the importance of history-taking skills that could potentially minimize further diagnostic or therapeutic interventions in this benign genetic disorder.
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