search string

Search

by localization

 

Hemochromatosis

definition

WHAT: Haemochromatosis: Haemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis. WHY: Haemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout. HOW: Haemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy. A disorder due to the deposition of haemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired haemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic haemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed)

synonyms

Hemochromatosis, Bronze Diabetes

UMLS

Bronze Diabetes, Bronze, diabetes, Bronzed cirrhosis, Bronzed diabetes, Bronzed, diabetes, Cirrhosis, liver, pigmentary, Cirrhosis, pigmentary of liver, Diabetes, Bronze, Diabetes, bronzed, Disease, iron, storage, Familial haemochromatosis, Familial hemochromatosis, HAEMOCHROMATOSIS, Hanot-Chauffard-Troisier syndrome, Hemochromatoses, Hemochromatosis, Hemochromatosis hereditary, HEMOCHROMATOSIS, FAMILIAL, HEMOCHROMATOSIS, HEREDITARY, HEMOCHROMATOSIS, IDIOPATHIC, Hemochromatosis, NOS, HEMOCHROMATOSIS, PRIMARY, Hereditary haemochromatosis, Hereditary hemochromatosis, Idiopathic haemochromatosis, Idiopathic hemochromatosis, Iron storage disease, Iron storage disease, NOS, Iron, storage disease, Pigmentary cirrhosis of liver, Primary haemochromatosis, Primary hemochromatosis, Syndrome, Hanot-Chauffard-Troisier, Syndrome, Troisier-Hanot-Chauffard, TROISIER-HANOT-CHAUFFARD SYNDROME, Von Recklinghaus Applebaum dis, von Recklinghausen-Appelbaum disease

images