Haemochromatosis, idiopathic

Retinopathy of prematurity Dietary iron overload (red wine, beer brewed in iron pots) Idiopathic haemochromatosis... 

Idiopathic haemochromatosis, not associated with a homozygous Cys282Tyr mutation of the HFE gene... 

Clearly, in the normal individual, iron levels are under extremely tight control and there is little opportunity for iron-catalysed free radical generating reactions to occur. However, there are situations when the iron status can change, either locally, as in ischaemic tissue, or systematically, as with idiopathic haemochromatosis or transfusion-induced iron overload. In such circumstances, abnormal levels of iron can induce toxic symptoms. 

Elevated iron, which usually corresponds to increased ferritin, is found primarily in idiopathic haemochromatosis and secondarily in acute viral hepatitis, liver cell necrosis and necrotic episodes, alcoholic liver diseases, porphyria cutanea tarda, oestrogen administration, etc. 

Macfarlane, J.D., Vreugdenhil, G.R., Doornbos, J., van der Voet, G.B. Idiopathic haemochromatosis magnetic resonance signal intensity ratios permit non-invasive diagnosis of low levels of iron overload. Netherl. J. Med. 1995 47 49-53... 

Genetic mechanisms A genetic disposition is suspected in HCC, as in other malignant tumours. Some 22% of patients suffering from HCC had other organ tumours as well. (135) Several hereditary metabolic diseases, with or without cirrhosis, may increase the risk of HCC considerably. These include tyrosinaemia (type I), glycogenosis (type I), alphai-antitrypsin deficiency, galactos-aemia, porphyria cutanea tarda, acute intermittent porphyria and idiopathic haemochromatosis. Patients... 

Simon M, Bourel M, Fauchet R, Genete B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976 17 332-4. 

Wilson s disease, haemochromatosis, galactosaemia, glycogenosis type IV, ai-antitrypsin deficiency, tyrosin-aemia, idiopathic neonatal hepatitis, Niemann-Pick disease, Gaucher s disease, fructose intolerance, defective urea cycle, etc. 

Haemochromatosis (HC) is a hereditary disease (autosomal recessive) affecting the iron metabolism. It refers to pronounced iron deposition, predominantly in the liver (>50% of the total iron in the body), but also in other organs, such as pancreas, spleen, heart, endocrinium, bone marrow, lymph nodes, salivary glands, basal skin layers and gastrointestinal epithelia. In addition to these hereditary (HFE-related) or idiopathic (non-HFE-related) primary forms, there are numerous acquired secondary forms of HC. At first, the cells of the RES become laden with iron. Only when the capacity of the RES is exceeded is there iron deposition in the parenchymal cells this leads to damage of the respective organs, (s. tab 31.17)... 

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