Symptomatic form of HFE-related hemochromatosis

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Synonyms: Symptomatic form of classic hemochromatosis | Symptomatic form of hemochromatosis type 1

A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms including abdominal pain weakness lethargy weight loss elevated serum aminotransferase levels increase in skin pigmentation and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly cirrhosis liver fibrosis hepatocellular carcinoma restrictive cardiomyopathy and/or diabetes mellitus.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Symptomatic form of HFE-related hemochromatosis?

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