Hemochromatosis: The Daily PANCE Blueprint
A 52-year-old man of northern European ancestry has a year of fatigue and aching in his second and third metacarpophalangeal joints. His wife has noticed his skin looks persistently bronzed even in winter, and he was recently diagnosed with type 2 diabetes despite a normal body mass index. On exam he has hepatomegaly and testicular atrophy. Laboratory studies show AST 68 U/L, ALT 74 U/L, ferritin 1,420 ng/mL, and a transferrin saturation of 68%. He drinks minimally and has never been transfused. Which of the following is the most appropriate initial treatment?
A. Deferoxamine chelation therapy
B. Corticosteroids
C. A low-iron diet alone
D. Serial therapeutic phlebotomy
E. Liver transplantation
Answer and topic summary
The answer is D. Serial therapeutic phlebotomy
Bronze skin, new diabetes, arthropathy of the second and third MCP joints, hepatomegaly, and a transferrin saturation above 45% with a high ferritin is hereditary hemochromatosis — usually a HFE C282Y mutation that switches off hepcidin, so the gut absorbs iron it does not need and deposits it in the liver, pancreas, heart, pituitary, joints, and skin. The old bedside name, “bronze diabetes,” is exactly this patient. The initial and definitive treatment is serial therapeutic phlebotomy — typically a unit weekly until ferritin falls to roughly 50 ng/mL, then maintenance every few months. It is cheap, effective, and if it is started before cirrhosis develops it returns life expectancy to normal. Chelation with deferoxamine is the trap: it is reserved for patients who cannot be phlebotomized, such as those with anemia or significant cardiac disease, and it is slower, costlier, and more toxic. A low-iron diet helps at the margins but will never unload existing stores, corticosteroids treat nothing here, and transplantation is only for end-stage liver disease. Confirm with HFE genetic testing, screen first-degree relatives, and remember the long tail — cirrhosis, hepatocellular carcinoma, restrictive cardiomyopathy, and hypogonadism — plus counseling to avoid alcohol, vitamin C supplements, and raw shellfish (Vibrio vulnificus thrives in iron-loaded hosts).
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