The Quiet Burden of Iron: A Rare Case of Hereditary Hemochromatosis in Pakistan

Hereditary hemochromatosis is characterized by excessive iron absorption through the gut and its deposition in the body. In many instances, symptoms do not arise until significant organ damage has occurred. Diagnosing a case of hereditary hemochromatosis is difficult even after the appearance of symptoms due to the diverse clinical presentations. Genetic testing should be done, whenever possible, to determine the underlying genetic abnormality. We present the case of a 42-year-old man who came to us with complaints of generalized body swelling and shortness of breath on exertion. He was found to have liver cirrhosis, dilated cardiomyopathy, and heart failure with reduced ejection fraction, bronze diabetes, and hypogonadotropic hypogonadism. He was diagnosed with hereditary hemochromatosis based on the clinical findings, markedly elevated serum ferritin levels (>2000 ng/dl), transferrin saturation (98%), and imaging, which revealed pathology involving the liver, pancreas, spleen, and the pituitary gland. Genetic testing could not be done due to the scarcity of resources. The patient underwent phlebotomy initially but was later put on an oral iron chelator, deferasirox, due to a drop in hemoglobin levels. This publication highlights the diagnostic challenge posed by hereditary hemochromatosis, particularly in regions with low disease prevalence, and the need for early detection to prevent advanced organ dysfunction.