Primary haemochromatosis

Primary haemochromatosis, caused by inappropriately high absorption of iron... 

Vibrio vulnificus Primary haemochromatosis Alcoholic liver cirrhosis 1.1... 

Method After emptying the bladder, deferoxamine (one vial of 500 mg) is injected (i.m.) and urine is collected for exactly 6 hours with subsequent determination of iron excretion. Iron levels of > 4 mg are considered to be characteristic of primary haemochromatosis, while iron levels of <2 mg are either regarded as normal or caused by secondary haemosiderosis. This test can also be executed as follows 10 mg/kg BW deferoxamine (i.m.) with urine collection for 24 hours, whereby haemochromatosis value is > 10 mg iron and normal value is < 2 mg. 

Much more research is needed to understand the mechanisms which lead to the spontaneous metal deposition in the tissues of patients with Wilson s Disease and primary haemochromatosis. The development of more and more sensitive tests that permit the detection of early signs of disease, well before it has progressed to the stage of causing obvious symptoms, the so-called occult disease, may well help to identify more diseases in which metals, or a spectrum of metals, play an important role in their development. Already studies in persons exposed to only natural levels of cadmium have identified groups of individuals who excrete more than 2 pg of cadmium per day in their urine, as compared with generally < 0.5 pg per day, and who also show very early biochemical signs of kidney malfunction. 

Chapman RW, Williams G, Bydder G, Dick R, Sherlock S, Kreel L (1980) Computed tomography for determining liver iron content in primary haemochromatosis. Br Med J 280 440-442... 

The high affinity for oxidized iron makes the siderophores ideal candidates for chelation therapy where the body is becoming overwhelmed by iron(III) either through acute poisoning or conditions like haemochromatosis that can occur when patients receive frequent blood transfusions. While enterobactin would seem to be the primary choice it has two major drawbacks its synthesis is complicated and, although both isomers bind iron(III) to the same extent, only the L-isomer has activity in vivo. Consequently desferrioxamine B is the agent of choice. 

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)... 

The correlation between hepatocellular carcinoma and haemochromatosis was described by M.J. Stewart in 1922. Primary liver cell carcinoma is thought to be the most common cause of death in haemochromatosis. Its frequency is reported to range between 6-42% or 7.3-18.9% (mean value approx. 14%), i.e. the risk of... 

Iron Anaemia Primary and secondary haemochromatosis siderosis, liver cirrhosis... 

Cholestatic disorder Alcohol-related cirrhosis Autoimmune cirrhosis Cryptogenic cirrhosis Haemochromatosis Alpha-l-antitrypsin deficiency Wilson s disease Primary biliary cirrhosis ... 

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