Hereditary haemochromatosis
| Haemochromatosis type 1 | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology, hepatology |
| ICD-10 | E83.1 |
| ICD-9-CM | 275.0 |
| OMIM | 235200 |
| DiseasesDB | 5490 |
| eMedicine | med/975 derm/878 |
| MeSH | D006432 |
| GeneReviews | |
Haemochromatosis (or hemochromatosis) type 1 (also HFE hereditary haemochromatosis or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores.Humans, like most animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, heart, skin, gonads, joints, and the pancreas; patients can present with cirrhosis, polyarthropathy, adrenal insufficiency, heart failure or diabetes. The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of Celtic descent. The disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Haemochromatosis is in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems. Many of the signs and symptoms below are uncommon and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they suffer premature morbidity.
The classic triad of cirrhosis, bronze skin and diabetes is not as common any more because of earlier diagnosis.
The more common clinical manifestations include:
Less common findings including:
Males are usually diagnosed after their forties and fifties, and women several decades later, owing to regular iron loss through menstruation (which ceases in menopause). The severity of clinical disease in the hereditary form varies considerably. There is evidence suggesting that hereditary haemochromatosis patients affected with other liver ailments such as hepatitis or alcoholic liver disease suffer worse liver disease than those with either condition alone. There are also juvenile forms of hereditary haemochromatosis that present in childhood with the same consequences of iron overload.
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