Hemochromatosis: what it is, symptoms and treatment

Hemochromatosis is a group of pathologies caused by excess iron in the body. It usually accumulates in the pancreas, liver and heart. Although iron is an indispensable element, in excess it can also be toxic.

Depending on the causes, it tends to have different incidences in the population. For example:

Hereditary hemochromatosis usually affects men over 50 years of age, and can also affect women and young people in specific cases. It is one of the most frequent genetic diseases in white people. It is transmitted from parents to children and affects one in every 500-1,000 people in Spain.
Acquired hemochromatosis usually affects young people with severe anemias of genetic origin requiring transfusion (thalassemia major, sickle cell disease), or older people with chronic anemias acquired by “degeneration” of the bone marrow (myelodysplastic syndrome).

It affects one in 500-1,000 people in Spain.

Prognosis of hemochromatosis

The prognosis depends on the extent of damage to the organs that were affected.

Early treatment can prevent complications such as liver disease, arthritis, heart disease or diabetes.

What are the symptoms?

The main symptom that can lead to suspicion is excessive fatigue and drowsiness. In addition, symptoms associated with other disorders are sometimes frequent:

Hepatic dysfunction, since the liver is usually the most affected organ: weakness, blood coagulation problems, water retention. If the liver dysfunction is severe, it is also accompanied by digestive bleeding, altered level of consciousness or accumulation of water in the abdomen. To this is added the possibility of these patients suffering from diabetes, due to the hepatic lesion.
Joint disease: these are typical in patients with iron overload (rheumatoid arthritis, osteoarthritis…). It usually affects the joints of the hands and hips, above all.
Amenorrhea or disappearance of menstruation in women.
Sexual impotence in men.
Darkening of the skin (in some cases).
Heart failure, in acquired hemochromatosis.
Fatigue, lack of energy and weakness.
Joint pain.
Weight loss.
Loss of sexual desire.
weight loss

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Medical tests for hemochromatosis

The specialist performs a physical examination. Medical tests may include blood tests, echocardiography, electrocardiography, CT scans, MRI, and ultrasound, among others.

Causes of hemochromatosis or why it occurs

Excess iron may be due to:

Genetic diseases that prevent the correct absorption of iron (hereditary, genetic or primary hemochromatosis).
Patients suffering from chronic anemia in which the excess iron is due to deposition of the metal from repeated transfusions (acquired or secondary hemochromatosis).
As a result of blood disorders such as thalassemia or due to too many blood transfusions.
Prolonged alcohol consumption.

Is it preventable?

If family members of a person diagnosed with hemochromatosis are screened, the disease can be identified at an early stage and treatment can be started quickly, without the disease having caused damage to other organs.

What does the treatment consist of?

The treatment of hemochromatosis differs depending on the cause in the patient:

In primary or hereditary hemochromatosis the disorder occurs due to an increased intestinal absorption of iron over the years. In these cases the appropriate treatment is phlebotomy, during which 450 ml of blood containing 0.2 ml of iron are extracted weekly.
In secondary hemochromatosis, as it is due to an accumulation of iron normally caused by periodic transfusions, it is not possible to treat the patient with phlebotomy. In this case, iron chelators are used. The first chelator is deferoxamine, a very effective but large drug with poor oral absorption. This means that the normal form of administration is by subcutaneous infusion over a period of eight to 12 hours, and three to seven days a week. If the patient is intolerant to deferoxamine, another chelator is used: deferiprone. As a last resort there is also a third chelator, deferasirox, which is administered orally once a day.

Which specialist treats it?

The hematology specialist treats cases of hemochromatosis.

Index

What is hemochromatosis?