Hemochromatosis

Hemochromatosis is a less common multiple organ disease that involves the iron metabolism. Iron is our body much needed as it is a vital part of many enzymes and it also has significance for binding the oxygen in red blood cells because iron is part of the hemoglobin molecule.

 

There only few grams of iron in our body (a weight of about one nail). It is a precious substance and as our body tries to preserve it all cost, there is practically no mechanism how to get rid of iron. The only substantial iron losses occur during the menstrual bleeding in women and by necrosis of old cells of the intestinal mucosa that are regularly excreted to stool and replaced by new ones.

 

As the iron losses are strictly limited, it uptake must be controlled as well. The iron is absorbed by mucosal cells of small intestine and the absorption is very strictly limited.

Causes

The disease is genetically determined and it is related with disorder of intestinal cells, which absorb large amount of iron. Our body is unable to handle high concentration of iron and its molecules accumulate in many organs damaging them. The actual symptoms of the disease are caused by dysfunction of those organs. The disease manifests stronger in men as women are “more protected” from iron accumulation by regular menstrual bleeding.

Symptoms

Iron accumulation in the skin causes its bronze color and the patient may look paradoxically healthy and tanned. Iron damages liver and causes necrosis of liver cells. Chronic progress of the disease may lead to liver cirrhosis with all its signs including complications such as liver failure and liver cancer (see related articles). Pancreas is usually damaged as well, especially its endocrinal cells producing insulin, causing condition similar to type 1 diabetes. Combined with the above-mentioned skin discoloration, we refer it to as the “bronze diabetes”. Heart damage caused by iron may be related to arrhythmias and symptoms of heart failure. Generally increased presence of iron in the body worsens the oxidative stress as iron is responsible for production of the oxygen radicals.

Diagnosis

The diagnosis can be made from occurrence of the stated symptoms. Blood tests confirm elevated concentration of serum level of iron, increased concentration of ferritin (depot form of iron), increase saturation of transferin (transport form of iron) elevated liver tests and hyperglycemia. Liver biopsy is of a great importance as it can confirm abnormally high amount of iron in the liver tissue. Liver cirrhosis may be confirmed by ultrasound and heart disorders by echocardiography.

Treatment

The best form of treatment is a regular blood taking of about 500 milliliters per week to ensure some iron losses and prevent its accumulation. Diabetes is treated by regular administration of insulin as in type 1 diabetes. When there is present a serious liver damage, the only option may be a liver transplantation.