Hemochromatosis – symptoms, diagnosis, treatment. Diet in hemochromatosis

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Hemochromatosis is a metabolic disease whose essence is the excessive accumulation of iron in the body. While the deficiency of this element rarely leads to death, its excess often causes directly life-threatening conditions: cirrhosis, hepatocellular carcinoma and circulatory failure.

Hemochromatosis – types

Hemochromatoza is a metabolic disease in which excess iron builds up in the tissues in the form of haemosiderin (a protein complex that stores iron in cells). In case of hemochromatozy wrodzonej The (primary) basis of this pathological process is a malfunctioning system responsible for the excretion of iron from the body. The system of controlling the absorption of this element from food works properly.

Congenital haemochromatosis can be divided into 4 types according to age and the type of mutation that causes it:

1. type 1, or classic adult haemochromatosis – in this case, symptoms usually appear between the ages of 30 and 50. It is worth noting that men suffer from this type 10 times more often. Type 1 is mostly due to a mutation in the HFE gene and is inherited in an autosomal recessive manner (inheriting two copies of the mutated HFE gene determines the disease). In addition, this variety appears due to changes in other genes: HAMP, HFE2, SLC40A1 and TFR2. It is assumed that after depositing 20g of iron in the body, its toxic properties can be observed, and in the case of men it occurs around the age of 50. In women, on the other hand, due to physiological blood loss (menstruation, childbirth), this occurs within a few years after the ovarian function has stopped. The deposited iron damages other organs.
2. type 2, or juvenile haemochromatosis – the variety is relatively rare and its symptoms can be observed before the age of 30. The most common symptoms include hypogonadism and heart failure. It should be added that in boys, juvenile hemochromatosis causes delayed puberty, and in girls, menstruation stops.
3. type 3 – This is a very rare form of haemochromatosis, the symptoms of which are also observed before the age of 30 and are associated with disturbances in the synthesis of hepcidin (a hormone responsible for iron homeostasis in the body). These disturbances are the result of the lack of activation of the corresponding modulator peptide. Type 3, like the two previously mentioned varieties, is inherited in an autosomal recessive manner.
4. type 4 – the last rare form of haemochromatosis which is the only one inherited in an autosomal dominant manner. This means that for a child to visit the disease, one of the parents must be a carrier of the mutation that leads to the disease. Type 4 is due to the abnormal activity of ferroportin (a protein responsible for transporting iron).

In the case of secondary hemochromatosis (also known as haemosiderosis) erythrocytes (red blood cells) and liver cells release too much iron, which then builds up in the body’s tissues. Iron accumulates in many organs (lungs, kidneys, heart, pancreas, endocrine glands), but most often in the bone marrow and liver.

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Hemochromatoza – ryzyko

Haemochromatosis is an inherited metabolic disease in which iron is excessively absorbed from food. The most common cause of primary, i.e. congenital haemochromatosis (also known as brown or brown diabetes mellitus) is a genetic mutation. Research shows that one in ten people carry a mutation in the hemochromatosis gene, but the symptoms only appear in people who have inherited one copy of the mutated gene from both the father and the mother.

Untreated haemochromatosis can damage the liver, pancreas and heart. For a long time it was thought that this condition only affected Caucasians and men, but it is now known that it can affect all races and women, although menstruation that reduces the accumulation of iron ions in women protects most of them, at least until menopause (which is why women they suffer from haemochromatosis 5 to 10 times less often than men).

According to statistics, 1 in 10 people in Europe carry one mutant HFE gene (which does not cause any discomfort). Experts say that people from Australia and Oceania are least likely to develop hemochromatosis. According to the data, congenital haemochromatosis occurs in 1 in 200-400 people.

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Hemochromatoza – objawy

The first symptoms of haemochromatosis most often appear between the ages of 40 and 60 and are practically imperceptible. They are rare in children, causing delayed puberty, and in girls, loss of menstruation. One of the symptoms may be the development of heart problems. Iron levels can also indicate a disease. In healthy women, the amount of iron should be between 6,6 and 26 mmol per liter of blood. However, in men it is normal – from 10,6 to 28,3 mmol per liter of blood. The disease can also be diagnosed by examining the serum transferrin level. Genetic testing helps dispel doubts.

Najczęstsze objawy hemochromatozy to znużenie, osłabienie, zmniejszenie masy ciała oraz bóle stawów (dlatego też ciężko rozpoznać chorobę w jej początkowym okresie). Z czasem osłabienie przechodzi w skrajne zmęczenie i kompletny brak energii. U dorosłych kobiet hemochromatoza powoduje przedwczesną menopauzą, u mężczyzn zaś problemy ze wzwodem (impotencja). W obu przypadkach zauważalna jest utrata popędu seksualnego.

Other symptoms are: gray-brown discoloration of the skin with a metallic sheen; scars at the site of discoloration; loss of hair in the pubic area, armpits, face. Symptoms of liver cirrhosis, diabetes mellitus, heart failure and endocrine glands begin to dominate.

Initially, i.e. until the age of 20, haemochromatosis usually does not show any symptoms (at this stage there is no significant increase in the amount of iron in the body). Then, in the age range from 20 to 40 years, the first non-specific symptoms and an increase in the concentration of accumulated tissue iron begin to appear. Treatment should also be started at this stage, otherwise, after the age of 40, the patient will have all the symptoms of the disease.

At this stage, without treatment, the risk of dying increases to 5 percent over the next 60 years. 30 percent of patients die from heart damage and 50 percent from liver damage (30 percent from primary liver cancer).

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Hemochromatoza – diagnostyka

Diagnostyka w przypadku hemochromatozy polega na badaniu stężenia żelaza w surowicy oraz określeniu zdolności wiązania żelaza przez transferynę (TIBC). Stosunek stężenia żelaza w surowicy do TIBC × 100% określa wysycenie transferyny (białka nośnikowego) żelazem. Przed badaniem osoba chora powinna być na czczo od godzin wieczornych dnia poprzedniego i nie stosować preparatów witaminowych z dodatkiem żelaza i witaminy C.

A saturation of more than 60% for males and greater than 50% for females suggests primary haemochromatosis (in both cases there is also a significant increase in serum transferrin). We talk about confirming haemochromatosis only when mutations of the HFE gene are detected by molecular methods. Now you can order such an examination online. Hemochromatosis – genetic testing of the most common mutations is available on Medonet Market.

W diagnostyce hemochromatozy liczy się także wykluczenia lub też potwierdzenie rozwijających się uszkodzeń wielu narządów, które cechują hemochromatozę pierwotną.

In the diagnosis of haemochromatosis, a liver biopsy is also performed, which is the main place where iron is stored in the body. Usually, it is one of the first organs damaged by iron build-up. A biopsy can show if there is too much iron in the liver or if there is liver damage. In addition, magnetic resonance imaging (MRI) is also helpful, thanks to which it is possible to measure the level of iron in the body. Your doctor may order an MRI scan instead of a liver biopsy.

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Hemochromatosis – treatment

Treatment of haemochromatosis is to remove excess iron from the body. Due to the large amount of iron bound to hemoglobin, the method that brings the best results is blood depletion (1 to 2 times a week, in the amount of 500 ml of whole blood). The excess iron step usually takes 1 to 2 years. Technically, bloodletting is similar to the method used to donate blood. However, it should be remembered that you should drink more fluids before and after the bloodletting procedure, such as mineral water, milk or fruit juice. Additionally, for the next 24 hours after the bloodletting, the person should avoid increased physical activity and simply rest.

The stage of maintenance of primary haemochromatosis treatment is long and consists in the continuation of bleeding (3 to 4 times a year for men or 1 to 2 times a year for women). In addition, continuous monitoring of blood counts, transferrin and iron levels is essential.

Contraindications to bloodletting are, for example, low serum protein levels or anemia. In such cases, deferoxamine is used, which is a drug that binds iron and enables its excretion from the body. It should be noted, however, that deferoxamine is much less effective in haemochromatosis than bleeding, and has a number of side effects.

Hemochromatosis – diet

It consists in limiting products containing large amounts of iron, especially iron well absorbed by the human body – in animal products: red meat, offal (liver, kidneys), egg yolk, but also dry legume seeds (especially red beans), dried fruit (apricots, plums), iron-fortified foods. It should be added, however, that non-heme iron from plant sources without the company of products rich in vitamin C is absorbed in a small amount and does not pose a threat to the patient (some fruits and vegetables, including spinach, mushrooms and olives, are rich in non-haem iron).

It should be added at this point that sugar and sugar-rich foods (including high fructose corn syrup) can increase non-haem iron absorption by up to 300 percent. It is also believed that beta-carotene in brightly colored foods such as carrots, sweet potatoes, beets, and red and yellow peppers promotes iron absorption.

Niektórzy dietetycy zalecają, by zadbać w posiłkach o produkty bogate np. w wapń, który ogranicza wchłanianie żelaza w przewodzie pokarmowym (przykłady żywności bogatej w wapń obejmują: jogurt; mleko; ser; tofu; zielone warzywa liściaste, takie jak brokuły). Jeśli chodzi o mięso to dobrze jest wybierać te mające mniejsze ilości żelaza np. ryby czy kurczak.

Warto również pić herbatę i kawę, ponieważ te zawierają garbniki, które są rodzajem polifenoli roślinnych. Taniny w herbacie i kawie mogą zmniejszać wchłanianie żelaza.

Interestingly, people with hemochromatosis have a higher level of oxidative stress, which can be harmful to our body. Eating foods that contain antioxidants can counteract oxidation and protect cells from damage. Many fruits and vegetables are rich in antioxidants such as vitamin E and selenium, and they also contain plant compounds that provide protective properties.

Examples of such relationships are:

1. luteina w ciemnozielonych liściach;
2. lycopene in tomatoes;
3. anthocyanins in beets and blueberries.

Pomocne może się także okazać spożywanie zbóż, roślin strączkowych, nasion i orzechów, ponieważ zawierają kwas fitynowy lub fitynian, który zmniejsza wchłanianie żelaza. Spożywanie pokarmów bogatych w fityniany, takich jak fasola, orzechy i produkty pełnoziarniste, zmniejsza wchłanianie żelaza niehemowego z pokarmów roślinnych. W rezultacie może zmniejszyć całkowity poziom żelaza w organizmie.

It should be added that the patient must also avoid drinking alcohol, because it increases the absorption of iron from the gastrointestinal tract and damages the liver. It is also important in your diet to avoid foods that increase the risk of food poisoning and to cook your meals carefully because of the high risk of sepsis (blood poisoning). In the case of patients who do not develop organ complications, these people can be physically active in the same way as healthy people.

Hamochromatosis and iron norms

The correct concentration of iron is:

1. and concentration 17,7-35,9 μmol/l (90-200 μg/dl),
2. u kobiet 11,1-30,1 µmol/l (60-170 µg/dl).

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Hemochromatosis – complications

Osoba z hemochromatozą może mieć większe ryzyko:

1. liver damage, which may require transplantation in some cases;
2. damage to the pancreas leading to its failure;
3. joint damage and pain (arthritis);
4. heart problems including irregular heartbeat and failure;
5. skin discoloration;
6. adrenal gland damage;
7. problems with the reproductive system such as erectile dysfunction and menstrual disorders.

Early treatment and active management and monitoring of iron levels can help prevent complications.

Hemochromatosis – pregnancy

Many women find out about haemochromatosis in middle age, often after their childbearing age. However, the disease is also found in women in their 20s or 30s, and it can happen during a routine blood test. The younger woman will need to be guided by future health choices, especially related to pregnancy and fertility, with hemochromatosis in mind.

Most sources suggest that it is wise to stop regular bleeding during pregnancy. Pregnancy is an unusual condition for a woman’s body because she actively needs more iron than normal (this helps to maintain the health and normal development of the baby). Interestingly, even women with hemochromatosis can develop iron deficiency during pregnancy! Iron deficiency is common, according to doctors, and should be treated in a similar way to any other pregnant woman. If your ferritin levels are high, you should postpone blood dropping until postpartum, unless you have liver and heart problems related to haemochromatosis.

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