Hemochromatosis: Revisiting an Old Disease – A Case Report

Abstract

Abstract           

Introduction: Hemochromatosis is part of hereditary diseases that cause iron overload, aUecting the liver, pancreas, endocrine glands, and heart, leading to organ dysfunction.

Case presentation: A 51-year-old male with a history of insulin-dependent diabetes mellitus, hypogonadotropic hypogonadism, and seronegative arthritis presents with a condition of overall health deterioration, hematemesis, and melena lasting 24 hours. Laboratory tests compatible with diabetic ketoacidosis are requested, and treatment with fluid resuscitation and insulin is initiated, with good progress. To investigate the decompensating factor, a contrast-enhanced CT scan of the chest, abdomen, and pelvis is performed, revealing multifocal pneumonia, as well as Chronic Liver Disease (CLD) with esophageal varices and moderate splenomegaly. Following this incidental finding, a study for CLD was initiated, and ferritin levels were recorded as > 1200 ng/ml. the high suspicion for hemochromatosis, an MRI of the liver for iron quantification, liver biopsy, and genetic testing are requested.

Discussion: The diagnosis of hereditary hemochromatosis requires a high level of suspicion, as it lacks specific symptoms or signs and usually presents asymptomatically. Transferrin saturation and ferritin tests are helpful, but the definitive diagnosis is made through iron concentration measurement via Magnetic Resonance Imaging (MRI) or liver biopsy. In this patient, the iron overload not only caused liver cirrhosis but is also inferred to be part of the origin of diabetes mellitus, hypogonadotropic hypogonadism, and joint involvement. The treatment is therapeutic phlebotomy, which improves symptoms and reduces morbidity and mortality if started early.