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What is it about ?
Hemochromatosis is a disease characterized by an accumulation of iron in the body, especially in the liver, skin and pancreas, but also sometimes in the muscle of the heart (myocardium), joints and a small gland located in the brain, the pituitary gland.
Hemochromatosis can be caused by an inherited change in genes or by a prolonged period of anemia. The most common form is hereditary hemochromatosis (genetically determined). The transmission is of the recessive type; this means that you can only have the disease if you inherited the genetic modification from both your father and mother. If you only inherit the genetic modification from one parent, you will not be sick, but a carrier of the disease. You can therefore pass this genetic modification on to your children.
What is its frequency?
The primary (hereditary) form of hemochromatosis is relatively common. We believe that in many cases the disease goes undiagnosed, so the numbers are underestimated. In Europe, 1 in 227 people suffer from hemochromatosis. In practice, it is observed that, in this group, the signs of an accumulation of iron appear only in 8 out of 10 men and 5 out of 10 women.
How to recognize it?
The inherited form of hemochromatosis mainly affects middle-aged men. The three classic signs of iron buildup are:
- An increase in the size of the liver (enlarged liver),
- Browning (hyperpigmentation) of the skin
- The development of diabetes.
Fatigue, decreased libido, joint symptoms and hair loss can also occur.
In some people, the disease starts before the age of 30. The first signs and symptoms are abdominal pain, diabetes, atrophy of the sexual organs and heart abnormalities.
How is the diagnosis made?
The diagnosis is based on the blood test. Two things are checked: the presence of iron in the blood and / or the genetic abnormality that causes hemochromatosis.
The biological examination consists of an iron balance in the blood (> 170 micrograms / 100 ml of blood) with iron saturation of transferrin. Iron saturation of more than 60% in men and more than 50% in women indicates an accumulation of iron. Hemochromatosis also increases ferritin (a protein inside cells that binds to iron) in serum (> 400 micrograms per liter of blood), but this increase is also possible with other conditions.
The doctor will make the definitive diagnosis based on the results of a genetic test.
The doctor will also perform a clinical examination, paying particular attention to the liver, skin, heart and various glands (testes, thyroid). A liver biopsy or MRI imaging can also make the diagnosis.
What can you do ?
If you are diagnosed with hemochromatosis, your first-degree relatives should usually be examined. They also run a risk of being carriers of the affection, without knowing it.
Don’t drink too much alcohol. Hemochromatosis is already causing big problems in the liver. Excess alcohol can cause even more damage to the liver.
Do not take too much vitamin C. Vitamin C helps the absorption of iron. A large amount of vitamin C can therefore cause serious side effects in people with hemochromatosis.
What can your doctor do?
Treatment for hemochromatosis involves removing excess iron from your body. With the inherited form, bleeding is in principle the safest and most effective form of treatment. Thus, half a liter of blood is taken once a week until the ferritin content is less than 50 micrograms per liter of blood. The bloodletting is then performed according to the results of blood tests, generally every 3 months. If necessary, a liver biopsy can be used to check if the excess iron has been removed.
If you have anemia, a heart problem, or insufficient protein in your blood, bleeding is not an option. If this is the case, the doctor may prescribe medicines (iron chelators). They fix iron in your blood, and are given intravenously. This requires a brief hospitalization.
Want to know more?
- Preparing for a liver biopsy – CHU Montreal
- MRI, here, Where to find on this page of Cliniques St Luc UCL
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