3187 Rare Presentation of Hereditary Hemochromatosis Brought to Light by Disseminated Mycoplasmosis

Abstract

INTRODUCTION: Hereditary hemochromatosis is commonly caused by mutation of the HFE protein (C282Y/H63D), leading to iron overload and deposition in the liver, heart, pancreas, and pituitary. Manifestations of Hereditary hemochromatosis differ based on the primary site of iron deposition, ranging from cirrhosis, cardiomyopathy, to diabetes and immunosuppression. which increases susceptibility to opportunistic infections including disseminated mycoplasma. Even with its estimated prevalence of 15% of all community acquired pneumonias, mycoplasma pneumonia is not well recognized for its multitude of rare extrapulmonary manifestations (Figure 1). CASE DESCRIPTION/METHODS: 43 year old male was found unresponsive at home. On admission, diffuse mucosal sloughing and bleeding with numerous small, flat, erythematous lesions on the trunk and extremities. Throat swab Polymerase Chain Reaction: positive for mycoplasma pneumonia, with IgM serum confirmatory test. These skin lesions would blister and ulcerate on following days. Skin biopsy revealed Steven Johnson Syndrome. On hospital day 6 patient was noted to have left hemiplegia, Head imaging, Right Middle Cerebral Artery ischemic stroke and hemorrhagic conversion. Cardiac Imaging showed No patent Foramen Ovale, no atrial thrombi or valvular pathology, leading to a diagnosis of cryptogenic stroke. In the presence of elevated liver function testing and diffuse hyperattenuation of the liver on non-contrast CT, Iron studies were obtained. Ferritin of 10,086 ng/ml, % Iron saturation of 78.7. Genetic testing returned homozygous for C282Y gene. Liver biopsy confirmed hemochromatosis. Appropriate antibiotics and serial phlebotomies started, after which he clinically improved. DISCUSSION: The liver plays a central role in the clearance of bacteria from the bloodstream as hepatic phagocytosis accounts for more than 80% of all reticuloendothelial system function. In hemochromatosis, patients have increased portocaval shunting from liver injury. Therefore, bypassing the liver, and reducing clearance of mycoplasma, predisposing patients to a more virulent clinical course. Mycoplasma's activity in an Iron rich environment is poorly understood. It is known that mycoplasma binds to lactoferrin, a protein largely responsible for iron sequestration in the body for bacteriostasis. This leaves room for further research regarding its evolutionary pathogenicity. Therefore, patients with unexplained opportunistic infections and elevated transaminases should be investigated for hemochromatosis.