Symptomatic form of HFE-related hemochromatosis
Synonyms: Symptomatic form of classic hemochromatosis | Symptomatic form of hemochromatosis type 1
Symptomatic form of hemochromatosis type 1 is a rare hereditary 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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Symptomatic form of HFE-related hemochromatosis?
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Global Liver Institute
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Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
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