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Hemochromatosis from a medical-nutritionist and dietetic view
By Sven-David Müller, M.Sc.
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 patient’s life. These individuals do not qualify as blood donors, since their blood does not range within the required norm. Medication is rarely given.
Iron overload or hemochromatosis is one of the most common hereditary metabolic disorders. Close to half a million people in Germany suffer from the condition and an estimated 5-10% of the Central European population can potentially transmit the genetic defect to their children. This gene defect – passed on by father and mother – results in an increased iron uptake at the nutritional level, due to a dysfunction in the small intestine and subsequently iron deposition in various organs (see graph). As a result, the following symptoms are observed in various manifestations and combinations:
- Fatigue, decline in productivity, depressive mood, difficulties concentrating,
- Cramping of the upper abdominal area, irregular heart beat, shortness of breath,
- Joint pain (especially knee, hip, finger, big toe),
- Declining libido, impotency, irregular or missed periods, gray-brown skin (possibly tanning)
Consequential damage with long-term iron poisoning in untreated patients could be hepatic cirrhosis, diabetes mellitus, hormonal disorders, weakness and arrhythmia of the heart, arthropathy, and heightened risk for liver carcinoma.
Diagnostic methods of the disorder include iron saturation and ferritin levels (ferritin as the storage protein) in the blood and with an increase in those levels genetic testing is warranted, which in 80-100% of cases confirms the typical mutation on the maternal and paternal alleles of chromosome 6. Ambiguous cases sometimes require the assessment of a liver biopsy. Therapy of the iron overload condition consists of regular phlebotomies for life, in order to deplete iron stores. If bloodletting is not indicated because of anemia or other reasons, the drug Desferoxamin (Desferal) is the treatment of choice. A diet low in iron can support the treatment, though it is not sufficient as the sole form of therapy. Early diagnosis and consistent phlebotomy therapy are vital in avoiding secondary conditions and having a life expectancy that is normal.
The iron overload disorder hemochromatosis is not among the diet-induced conditions. Nevertheless, hemochromatosis patients do benefit from a balanced diet, which should be low in iron. Moreover, some nutritional principles in context with phlebotomies should be considered. It seems unreasonable for hemochromatosis patients to ingest a diet that is rich in iron. This is particularly exacerbated in a situation when the body takes up iron very efficiently. Meat and sausage products are an example for this food category. People with iron overload disorder should absolutely avoid multivitamin/mineral supplements, since those usually also contain iron. In addition, the commonly added vitamin C promotes iron uptake from food. Also, caution should be taken not to consume food items enriched in iron. Any enrichment has to be indicated on the food label. Whereas vitamin C promotes iron uptake, tannin in black tea, calcium in milk products, dietary fiber like pectin or phytate in whole grain products impede iron uptake. As a precaution and to treat a developing hemochromatosis, a reduction of iron in the diet could be advisable. It is recommended that hemochromatosis patients follow an iron-reduced, healthy and diversified diet. Zinc supplements are beneficial, since they block iron uptake.
Patients who suffer from hemochromatosis should consume less iron-rich food items, i.e., not daily and in large quantities. An important consideration is that the human body can utilize iron of animal origin more efficiently than iron of plant origin. Therefore, “iron-bombs” of animal origin are marked with an asterisk (*) and plant-based foods despite of a high iron content are not. This means, the latter are allowed, as long as they are not consumed in combination with additional vitamin C or other substances considerably improving iron uptake.
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