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DOWNLOAD PDFThe liver is the organ most severely involved in hemochromatosis. Initially, the hemosiderin is deposited in the cytoplasm of hepatocytes, and with increasing accumulation, there is progressive involvement of the lobes along with the bile duct epithelium. Fibrous septa can develop in the liver, leading to a micronodular pattern of cirrhosis.
Excessive iron accumulation is directly toxic to host tissue due to the formation of reactive oxygen species and stimulation of collagen formation. In the liver, excessive iron accumulation can lead to lethal cell injury with a predisposition for micronodular cirrhosis and hepatocellular carcinoma. Hepatocellular carcinoma is a significant cause of death in these individuals, with a 200-fold greater risk than in the general population.
Hemosiderin is deposited in the pancreas in both the acinar and islet cells and can cause diffuse interstitial fibrosis. Destruction of the pancreatic islet cells can cause deranged glucose homeostasis or frank diabetes mellitus.
Skin pigmentation is a classic feature of hemochromatosis caused by both hemosiderin deposition in dermal macrophages and increased epidermal melanin production.
The heart is often enlarged due to hemosiderin deposition and can lead to congestive heart failure.
Excess iron can deposit in the joint synovial linings as well as articular cartilage, causing severe arthropathy.
The testes are commonly affected and can become small and atrophic, although usually not significantly pigmented. Testicular atrophy can lead to symptoms including impotence.
Impotence is defined as the failure to achieve and sustain an erection sufficient for mutually satisfactory intercourse and can be caused by hemosiderin deposition in the testes.
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