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.
Reference: Access aggregated data from Orphanet at Orphadata.
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?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
We support, educate, and advocate for patients & families affected by metabolic disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.