Hematology

Hemochromatosis

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Hemochromatosis
foto de Fernando Martínez Sáez
Written by

Fernando Martínez Sáez
Medically reviewed by our Medical staff

Last update: 30-08-2021

How else can it be called?

  • Iron overload disease

  • Haemochromatosis

  • CIE-9: 275.03

  • CIE-10: E83.11

What is hemochromatosis?

Hemochromatosis is an iron metabolic disorder that results in the accumulation of iron in multiple organs of the body. The most affected organs are the liver, the heart and the pancreas.

There is an increased intestinal (gut) absorption of iron. This subsequently causes the store of iron in different tissues and organs, altering their proper function.

Iron overload is usually observed in different organs such as:

  • Liver: The liver is the most affected organ because it may store big amounts of iron. Therefore, the liver may increase in size (hepatomegaly). Besides, iron overload in the liver is a risk factor for a future development of cirrhosis or liver cancer.
  • Pancreas: Iron overload in the pancreas may produce diabetes.
  • Skin: It is common the presence of darker patches of skin (hyperpigmentation).
  • Heart: It may produce pressure overload due to the excess of red cells in the blood (thicker blood). This may subsequently cause arrhythmia and heart failure.

What types of hemochromatosis are there?

Hemochromatosis can be classified into:

  • Primary or hereditary: It is a genetic and hereditary disorder.
  • Secondary or acquired: It is not hereditary and it is a consequence of another disease.

What causes hemochromatosis?

The causes depends on the type of hemochromatosis:

  • Primary hemochromatosis: Primary hemochromatosis is a genetic disorder that may be inherited. The genetic mutation alters the metabolism of iron and causes iron overload in different organs. Primary hemochromatosis is usually the consequence of a mutation in the HFE (homeostatic iron regulator) gene located on chromosome 6 (6p22.2). It is inherited with an autosomal recessive inheritance pattern; thus, it is necessary to inherit both altered genes from the mother and father simultaneously to suffer the disease.
  • Secondary hemochromatosis: Iron overload may be caused by:
    • Multiple blood transfusions.
    • Oral supplementation of iron to treat anemia.
    • Excessive iron absorption.
  • Secondary hemochromatosis is a consequence of other blood diseases, such as thalassemia, anemia, chronic alcoholism, etc.

What incidence does it have?

Hemochromatosis has a prevalence of 1 in 250 people. It is more common in male than in female with a ratio of 3 to 1.

What are the symptoms of hemochromatosis?

Symptoms of hemochromatosis usually develop in adults over 40 years old and mostly in males.

The most common symptoms are:

  • Muscle weakness
  • Fatigue
  • Weight loss
  • Joint pain
  • Darker patches of skin (hyperpigmentation)
  • Abdominal pain
  • Loss of body hair
  • Decreased libido (decreased sexual desire)
  • Erectile dysfunction/impotence in men

How can it be detected?

A physical exam of the abdomen can detect an enlarged liver (hepatomegaly) or enlarged spleen (splenomegaly). Darker patches of skin without a known cause may be also a clue for diagnosis.

Hemochromatosis can be confirmed by a blood test that shows:

  • Increased serum iron levels (hypersideremia).
  • Decreased iron-binding capacity (decreased TIBC).
  • Elevated levels of serum ferritin (hyperferritinemia).
  • Increased percentage of transferrin saturation (high transferrin saturation).

A liver biopsy can be used to further confirm the diagnosis, although it is usually not necessary.

Additionally, a genetic test can be performed to detect hemochromatosis in asymptomatic family members of symptomatic patients.

The extension of the disorder from a physiological basis and its possible complications can be studied using electrocardiogram, CT (abdominal scan), blood tests measuring alpha-fetoprotein and other tumor markers, glycemia and hepatitis serology.

What is the recommended treatment?

The recommended treatment is regular blood withdrawals (phlebotomies) to remove the excess of iron in the blood. This will prevent iron overload in organs and tissues.

At first, it is suggested to start by removing half-liter of blood every week. Depending on the evolution of the disease and its symptoms, phlebotomies may become less frequent.

If the person receives repeated blood transfusions, iron-chelating agents (deferoxamine, deferasirox, deferiprone) can be administered. These drugs are used to eliminate the excess of iron from the body.

Possible complications such as diabetes, arthritis, liver disease (cirrhosis), and heart problems (cardiomyopathies) should be controlled.

It is recommended not to drink alcohol and avoid iron supplements or iron-rich foods (raw fish, food cooked in metal pots, iron-fortified food, etc.).

What is the prognosis of hemochromatosis?

If the disorder is detected early and has not yet affected the liver, the pancreas or the heart, the prognosis is very good. Consequently, genetic studies for the early detection of hemochromatosis are being promoted in the families of those affected by this disorder.

Medically reviewed by our Medical staff on 30-08-2021

Bibliography

  • Rheumatology: Diagnosis & Therapeutics (2nd Ed). John J. Cush, Arthur Kavanaugh, C. Michael Stein. ISBN: 0-7817-5732-0. Pag. 199.
  • Textbook of Clinical Gastroenterology and Hepatology (2nd Ed) 2012, Antonello Pietrangelo, ISBN: 978-1-4051-9182-1, Pag. 675.
  • Oxford Textbook of Rheumatology (4th Ed), 2013, Graeme J. Carroll, WIlliam H. Breidahl, and John K. Olynyk, ISBN: 978–0–19–964248–9, Pag. 1471.
  • Atlas of Genetic Diagnosis and Counseling (3rd Ed) 2017, Harold Chen, ISBN: 978-1-4939-2400-4, Pag. 1345.
  • What is hereditary haemochromatosis? - Wellcome Genome Campus. Available on: https://www.yourgenome.org
  • Hereditary haemochromatosis - Genetics Education. Available on: https://www.genetics.edu.au
  • First Aid for the Basic Sciences: Organ Systems (3rd Ed) 2017, Tao Le, William L. Hwang, Vinayak Muralidhar, Jared A. White and M. Scott Moore, ISBN: 978-1-25-958704-7, Pag. 247.
  • Basic Pathology (10th Ed) 2018, Vinay Kumar, Abul K. Abbas, Jon C. Aster, ISBN: 978-0-323-35317-5, Pag. 656.

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