Hémochromatose

Hemochromatosis is an inherited disease in which the body absorbs too much iron from the diet.

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what is hemochromatosis?

Hemochromatosis is an inherited disease in which the body absorbs too much iron from the diet. Normally, only enough iron to meet the body’s daily requirements is absorbed and the rest is usually excreted through the bowels. In hemochromatosis, however, iron continues to be absorbed and stored in different organs and tissues long after body needs are met.

The liver is the first organ to store iron and when its capacity is exhausted, the iron continues to accumulate in the heart, the pituitary gland and other places in the body. If untreated, damage to the liver, heart, and pancreas can be fatal.

Hemochromatosis is hereditary. Which means a patient must inherit two defective genes, one from each parent. Siblings of an affected individual have a 25% chance of developing this disease. Children are less likely to be affected since the other parent must be a carrier of the gene.

en bref

  • Hemochromatosis is one of the most common genetic diseases in Canada affecting 1 in 327 Canadians.
  • Siblings of an affected individual have a 25% chance of developing hemochromatosis.
  • Women typically present signs later in life when they are postmenopausal, likely because of menstrual blood loss delaying the development of symptomatic iron overload.
  • The clinical manifestations of iron overload typically develop in the 40s or 50s.

symptômes

The liver begins at birth to retain iron, but it could take 20-30 years before symptoms begin to show.

  • fatigue
  • swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers

In later stages:

  • abdominal pain or tenderness
  • yellowing of the skin and eyes (jaundice)
  • distention of the abdomen (ascites)
  • bleeding from dilated veins in the esophagus (variceal bleeding)
  • development of diabetes
  • the skin may have a bronze or grey colour
  • excessive hunger and thirst
  • frequent urination

l'impact du mode de vie

With iron over-accumulation in the heart muscle, it can produce irregular heart rhythm, causing shortness of breath and swelling of the ankles. In the pituitary gland, iron deposits can lead to sexual dysfunction, loss of libido and impotence in men, and menstrual irregularities in women.

que puis-je faire ?

la prévention

Hemochromatosis is a disease caused by genetics, so it cannot be prevented. However, the early detection and treatment of hemochromatosis are crucial in preventing the complications of further developments such as cirrhosis or liver cancer.

diagnostic

Blood tests are used to measure the iron level in the blood and total iron deposited in the tissues to detect hemochromatosis. The most common tests are the transferrin saturation and serum ferritin. There is also a new development of a genetic test which is usually done on a blood sample in a regional lab specializing in DNA testing. This has alleviated the need for liver biopsy in many young patients.

traitement

The goal of treatment is to reduce the amount of iron stored in the body. This is accomplished by a procedure known as venesection or phlebotomy (bloodletting). It is usually done on a weekly basis and is similar to making a blood donation. Since the red blood cells contain iron, essential for transporting oxygen and nutrients to the tissues, the body will draw on the accumulated iron to replace the lost red blood cells.

Treatment may take months, or even up to two or three years, depending on the amount of iron that has accumulated. Once the excess iron has been removed by blood-letting, the person must continue to have the amount of body iron monitored annually.

l'alimentation

Iron supplements, multi-vitamins, and mineral preparations containing iron should not be taken. Vitamin C, which enhances the absorption of iron when consumed with food, should be avoided or taken only four hours before or after a meal. Also, excess alcohol consumption can also enhance the absorption of iron.

ressources supplémentaires

Voici quelques questions à poser à votre médecin ou à l'équipe médicale :

  • What is my family’s risk of developing hemochromatosis? Should my family be tested?
  • What treatment and/or lifestyle modifications are beneficial for someone with hemochromatosis?
  • How severe is my liver damage?