Hemochromatosis

May 2017


Definition


Hemochromatosis is a genetic disorder that causes a buildup of too much iron in the body and certain organs in particular. Heart, liver, skin and pancreas are the main organs affected. Iron is used by the body as needed. The excess is eliminated naturally. As part of the disease, a genetic abnormality will result in a paradoxical message of there being a lack of iron, which will consequentially promote its gastrointestinal absorption.
For an individual to develop the disease, both parents must be carriers of the defect. Other conditions may also be responsible for an excess of iron in the body such as blood disorders and liver diseases such as advanced-stage cirrhosis.

Symptoms


The patient usually shows no symptoms for several years. The accumulation of iron in the body is progressive.
The clinical signs are varied and depend on the organs that are affected:
  • tiredness;
  • tanned skin tone;
  • hepatomegaly (enlarged liver) which may progress to cirrhosis;
  • cardiac arrhythmias;
  • localized edema at the ankles;
  • joint pain;
  • onset of diabetes.

Diagnosis


The diagnosis is based on blood tests:
  • determination of serum ferritin (iron levels in the body);
  • determination of transferrin saturation.

The search for the defective gene (HFE) is performed if the test results point to a diagnosis of hemochromatosis.
Additional tests are also made:
  • MRI of the liver that may show signs of iron overload;
  • diabetes screening;
  • Cardiac examinations;
  • occasionally, a liver biopsy to assess the impact on the liver.

Treatment


The treatment is based on the practice of bloodletting that allows a reduction in iron levels.
Usually about 500 ml of blood is taken. This treatment is initially performed every week and then spaced out over several months when a balance is achieved. This treatment is carried out for life. Treatments preventing the production of iron are sometimes used. A liver transplant may be considered if an advanced stage is reached.

Related

Published by Jeff. Latest update on June 14, 2013 at 05:40 PM by Jeff.
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