Liver manifestations usually do not begin until liver stores become saturated (6–7 g).

Iron deposition within cardiac tissue can lead to either dilated cardiomyopathy or a mixed dilated-restrictive picture. Conduction disturbances such as atrial fibrillation or sick sinus syndrome have also been linked with hereditary hemochromatosis. Dysrhythmias and cardiomyopathy are the leading cause of sudden death in patients with iron overload.



Pathologically, the presence of “iron-free” nodules on histologic examination has correlated with onset of hepatocellular carcinoma.





With treatment, elevations in liver function tests and hepatomegaly are reversible. No strong evidence currently exists with respect to the reversibility of portal hypertension with treatment. 

With phlebotomy, both the cardiomyopathy and dysrhythmias associated with iron deposition can be reversed, albeit to a variable extent.



The majority of deaths related to hereditary hemochromatosis (89%) are attributable to complications of cirrhosis. Overall, the risk of hepatocellular carcinoma in patients with hereditary hemochromatosis who develop cirrhosis is 200 times that of the general population (5% annual risk after the development of cirrhosis).

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What is the unifying common denominator in the pathogenesis of hereditary hemochromatosis?

Impaired expression of hepcidin

Enhanced expression of transferrin receptor

Enhanced expression of ferritin

Impaired expression of transferrin

Enhanced expression of ferroportin

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The correct answer is A.

Hepcidin is the master regulator of iron homeostasis, suppressing both absorption of iron from the gastrointestinal tract and iron release from macrophages. Therefore, inactivating mutations of the hepcidin gene or of genes that support or promote transcriptional expression of hepcidin will result in iron overload. (The answer is A.)

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