Sven-David Müller - Eating Right with Hemochromatosis. A Diet Guide for Reducing Iron

Hemochromatosis is a rare disorder of the iron metabolism, which leads to abnormal deposits of iron in the liver and other organs. Alone in Germany, an estimated two to four hundred thousand people suffer from hemochromatosis.

Hence, the so-called iron overload is among the most common hereditary disorders. In the format of this short communication we will discuss, what the characteristics of hemochromatosis are and how it can be recognized at an early stage. The disorder is usually diagnosed in patients between 40 and 60 years old. Primary hemochromatosis has a hereditary cause, whereas the secondary form of iron overload occurs with blood disorders. Patients suffer from a particular form of diabetes mellitus and dark pigmentation of the skin (bronzing), as well as hepatic cirrhosis. Other clinical syndromes include hormonal imbalances, cardiomyopathy and other physiological changes. Patients show elevated serum levels of iron and increased concentrations of ferritin. Routine treatment consists in phlebotomies. Moreover, extreme challenges such as food items rich in iron must be avoided. An iron-reduced diet, however, cannot replace phlebotomies as a form of therapy. The daily intake of meat and sausage products is not to exceed 120 grams (or 4.2 ounces). As a matter of principle, offal and processed products thereof must be avoided and it is recommended to consume cheese rather than sausage products.

Hemochromatosis (iron overload), which was described for the first time in 1889, is caused by an autosomal recessive gene defect, afflicting men at a ten times higher rate than women. The disorder is characterized by an increase in the total iron content of the individual from 4-5 g in the normal range to up to 80 g, due to an elevated iron absorption rate in the intestine. The first clinical presentation of the disorder is seen after the age of 20 at the earliest, more commonly between 40 and 60 years old. Women most often are affected after menopause, hence after cessation of their monthly period. Untreated hemochromatosis can lead to extreme fatigue, joint problems, diabetes, abnormal skin pigmentation, cardiomyopathy, hormone disorders, hepatic cirrhosis, to even liver carcinoma. Treatment consists of phlebotomies in regular intervals in the fashion of bloodletting. With timely diagnosis and treatment, life expectancy and quality of life are hardly compromised.

Hemochromatosis is one of the most common hereditary disorders in Europe. It is characterized by an increased iron uptake from the intestine to the blood, which is the vehicle transporting and ultimately depositing the iron in various organs. Iron in the right amount is indispensable for the synthesis of i.e., the red blood cells, or hemoglobin. Iron in excess amounts in the blood causes considerable damage through subsequent deposition in various organs.

The normal range of iron contained in the human body is 4-5 g. With hemochromatosis, the total iron content of the body varies between 20 and 80 g in comparison. A laboratory-based parameter is a 60% increase in transferrin saturation. The term is explained in the section on iron in the body. Without treatment, which consists of regularly scheduled phlebotomy (bloodletting), this disorder bears significant health risks, including a marked decline in quality of life and lifespan. The onset of clinical signs is rarely seen before 20, rather between 40 and 60 years of age. Hemochromatosis is an autosomal recessive genetic disorder, autosomal meaning that the relevant gene defect is not located on a sex chromosome and recessive meaning that a respective carrier expressing the defect on a single chromosome is not affected phenotypically. In order for a descendant to have a chance of exhibiting symptoms, both parents have to be carriers of the defect. The gene responsible for the defect is located on chromosome 6 and is known as the HFE gene, with H standing for hemo- and FE for the chemical symbol of iron, Fe. The majority of mutations target the HFE1 gene, though very rare and specific forms of the disorder are encoded by mutations to the HFE2 and HFE3 genes. Men are affected at a ten times higher rate than women, since women are quasi subjected to natural therapy through their monthly menstruation. In the beginning stages, there are usually no noticeable symptoms. The affected individuals often do not know about their defect. The earliest onset of symptoms occurs after 20 years of age, in the majority though, between 40 and 60. As mentioned before, women almost exclusively show symptoms after menopause. With a total iron content of less than 10-15 g at the lower end of the abnormal spectrum, no symptoms are expected, which is termed the latent form of hemochromatosis. A histological examination, i.e. at the microscopic tissue-level, of the hepatic tissue, however, shows iron overload of those cells at this stage already.

A further increase of the iron content leads to the following symptoms and medical conditions, respectively:

Fatigue, general weakness, indisposition

Diabetes (diabetes mellitus)

Discolorations of the skin

Loss of libido, impotency

Abdominal pain

Shortness of breath

Joint problems

Hepatic cirrhosis to liver carcinoma

Heart disease

Early diagnosis is imperative for a successful therapy. Tissue damage due to iron overload, resulting in cardiac myopathy, joint damage, diabetes or hepatic cirrhosis normally cannot be reversed, despite of intense therapy. Treatment of hemochromatosis consists of the very old method of phlebotomy, which is bloodletting. Hereby, initially about 500 ml of blood is drawn once or twice a week. One or two phlebotomies of 500 ml each per week can remove 200 to 400 mg of iron and are usually tolerated by the patients without any problems. In order to monitor the success of treatment, iron indicators should be assessed on a regular basis. In case the therapy led to a normalization of total iron levels, 4-6 phlebotomies per year are required for the rest of a patients life. These individuals do not qualify as blood donors, since their blood does not range within the required norm. Medication is rarely given.