The Iron Mask: Uncovering Hemochromatosis in a Renal Transplant Recipient with Transaminitis

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Iron overload is an underrecognized cause of liver dysfunction in renal transplant recipients. While secondary hemochromatosis is usually linked to transfusions and iron supplementation, its presentation posttransplant is rare and diagnostically challenging. A 29-year-old male with end-stage kidney disease on hemodialysis for 6 years underwent a deceased donor renal transplant. Posttransplant, he developed asymptomatic transaminitis with normal bilirubin and mildly elevated alkaline phosphatase. Imaging revealed fatty liver, and infections, autoimmune causes, and drug toxicity were ruled out. Skin hyperpigmentation and rising hemoglobin levels prompted further evaluation. Iron studies showed elevated ferritin (1746 ng/mL) and transferrin saturation (60%). Magnetic resonance imaging demonstrated hepatic iron overload, and liver biopsy confirmed hemochromatosis. Genetic testing revealed a heterozygous H63D mutation. The patient was managed with regular phlebotomies. Over 12 months, liver enzymes normalized, ferritin decreased to 230 ng/mL, and hemoglobin stabilized at 14 g/dL. This case illustrates how renal transplantation and associated therapies can unmask hereditary hemochromatosis in genetically susceptible individuals. Iron overload may manifest subtly with transaminitis, skin changes, and erythrocytosis. In transplant patients, it is often overlooked due to the multifactorial nature of posttransplant liver enzyme elevation. Hemochromatosis should be considered in renal transplant recipients with unexplained transaminitis and elevated iron parameters. Early diagnosis and treatment with phlebotomy can prevent long-term complications, including cirrhosis and graft dysfunction. Regular monitoring of iron indices is essential in patients at risk due to prior transfusions or iron therapy.

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