A 56-year-old man presents with a change in skin color, fatigue, and abdominal pain. He has also noticed increased urine output and thirst. On examination, his skin appears bronze in color, his liver span is 16 cm, and there is loss of body hair, and testicular atrophy. His ferritin is 600 ng/mL (15-200 ng/mL), aspartate amino transferase (AST) 130 U/L (8-20 U/L), alanine amino transferase (ALT) 150 U/L (8-20 U/L), and total bilirubin 0.5mg/dL (0.1-1 mg/dL). Coagulation tests and albumin level are normal but the random glucose is elevated at 250 mg/dL. Which of the following is the most likely diagnosis?
Correct Answer: hemochromatosis
Description: High ferritin, hepatomegaly, skin changes, and diabetes suggest hemochromatosis. The arthritis is characterized by chondrocalcinosis, but, unlike idiopathic chondrocalcinosis, the hands are usually involved first. The arthropathy often progresses despite phlebotomy. Liver disease is usually the presenting feature. Skin pigmentation is predominantly by melanin. Heart failure is the most common cardiac problem. Addison's does not involve the liver, and Wilson's usually presents at an earlier age and does not cause diabetes. In amyloidosis, skin pigmentation is not a feature.
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