Haemochromatosis

Clinical picture

In the case of haemochromatosis, the intestines absorb more iron from processed food than is required. Normally this excess is removed through urine, but in the case of patients with hemochromatosis, the concentration of iron is too high to be normally processed. As a result, iron accumulates in different organs around the body. Also known as iron overload disorder, haemochromatosis is generally a hereditary condition.

In the early stages of the disease, the iron overload does not have serious consequences and is stored primarily in the liver. However, as the concentration of iron increases, the liver struggles to store it all, resulting in liver damage by an increase of connective tissue. Eventually this leads to the development of liver cirrhosis. After the liver is damaged, the iron will accumulate in other organs, such as the pancreas, the muscular walls of the heart, the skin and joints around the body.

Symptoms

The symptoms of haemochromatosis are not the same for every person. It presents itself mostly in vague complaints such as chronic fatigue, joint problems, abdominal complaints, diabetes, liver function abnormalities, hormonal disorders, skin discoloration and loss of libido. Due to a large variety of symptoms, a physician may not immediately consider haemochromatosis. Furthermore, most patients do not have clear symptoms of the disease in later stages of life, and some patients may not even have symptoms, despite having haemochromatosis.

Furthermore, iron accumulation in organs can cause specific complaints:

• Pancreas: destruction of the β-cells, with diabetes mellitus (diabetes) and glucosuria (sugar in the urine) as a result.
• Cirrhosis of the liver.
• Skin: hyperpigmentation, causing a bronze-like appearance.
• Heart muscle tissue: heart failure.
• Pituitary gland: hormone failure resulting in libido loss and impotence.
• Joints: osteoarthritis.

Cause

There are two types of haemochromatosis: primary and secondary haemochromatosis.

• Primary haemochromatosis is a hereditary condition. The cause is a change (mutation) in the HFE gene. This mutation may be the C282Y mutation or the H63D mutation. This disease will only develop when both parents are carriers of the mutation and pass on this mutation.
• Secondary haemochromatosis is the non-genetic variant and is less common. Usually this disease is the result of another condition. For example, it may occur in patients with beta thalassemia, aplastic anaemia, sickle cell disease and myelodysplastic syndrome. Iron accumulation is often the result of chronic blood transfusions.

Diagnosis

Because haemochromatosis presents itself with a wide variety of symptoms, it may take a while to diagnose the disease. The final diagnosis is based on the following studies:

• Blood tests for determining transferrin saturation (iron saturation) and ferritin content (protein for iron storage).
• DNA research into hereditary defects.
• Liver biopsy to assess the damage to the liver.
• MRI-scan to investigate possible other affected organs.

Treatment

The treatment of hereditary or primary haemochromatosis is aimed at preventing further liver damage. The treatment consists of:

• Phlebotomy (bloodletting) in which a certain amount of blood is taken, causing the iron level of the blood to drop. Regular bleeding is necessary to reduce and maintain normal iron levels.
• Limiting iron and vitamin C intake.

In patients with the secondary type of hemochromatosis, iron chelation therapy is the most common provided therapy. Iron-binding agents (deferasirox, deferiprone, deferoxamine) can also be prescribed to achieve normal iron levels.

Additional information

Patient organisations

Hemochromatose Vereniging Nederland (HVN) (Nederlands)

Related articles

Links

Mayo Clinic – Hemochromatosis (English)