Symptomatic form of hemochromatosis type 1

Orpha code: 465508OMIM code: 235200

Definition

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.

Disease data
Classification

Disease

Synonyms
Symptomatic form of HFE-related hereditary hemochromatosis
Objawowa postać hemochromatozy dziedzicznej związanej z HFE
Objawowa postać hemochromatozy klasycznej
Symptomatic form of classic hemochromatosis
Objawowa postać hemochromatozy związanej z HFE
ORPHA code
465508
OMIM code
235200
ICD10 code
E83.1
ICD11 code
-

No additional description.

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