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Inherited liver diseases

The two most common inherited liver diseases are haemochromatosis and alpha-1 antitrypsin deficiency.

Haemochromatosis

Haemochromatosis is a disease in which excess iron is absorbed from the diet and deposits of iron then collect in the liver and other organs. The commonest form of haemochromatosis accounts for nearly all hereditary iron overload disorders. When one family member has this disorder, siblings, parents, and children are also at risk.

A secondary form of haemochromatosis is not genetic and is caused by other diseases, such as thalassaemia (a genetic blood disorder that causes anaemia).

The iron overload associated with haemochromatosis affects men five times more often than it does women. Because women lose blood through menstruation, women are unlikely to show signs of iron overload until 10 or more years after menopause.

Haemochromatosis is more common in people of Northern European descent.

 

What are the symptoms of haemochromatosis?

The symptoms and signs of haemochromatosis include:

  • Liver enlargement
  • Joint pain
  • Fatigue
  • Unexplained weight loss
  • A darkening of the skin frequently referred to as "bronzing"
  • Abdominal pain
  • Loss of sexual desire

People with haemochromatosis may also have signs of diabetes and heart disease and may also develop cirrhosis, liver cancer, testicular atrophy (wasting away), and chronic abdominal pain.

 

How is haemochromatosis diagnosed and treated?

Whenever haemochromatosis is suspected, blood tests to look for excess iron in the blood are performed. If excess iron is found, a genetic test (haemochromatosis DNA test, done on blood) is performed. The genetic test is also used to screen family members of patients who test positive for the genetic test.

The goal of treatment is to remove excess iron from the body, as well as reduce any symptoms or complications that have resulted from the disease.

Excess iron is removed from the body in a procedure called phlebotomy. During the procedure, one-half litre of blood is removed from the body each week for a period of up to two or three years until the iron buildup has been reduced.

After this initial treatment, phlebotomies are needed less frequently. The frequency varies based on individual circumstances. To help keep iron levels down, people with haemochromatosis need to avoid dietary iron, most commonly found in offal, red meat and fortified breakfast cereals, as well as multi- vitamin preparations. If you have haemochromatosis, your consultant or dietitian will put together a diet that is right for you. It is also a good idea to limit intake of vitamin C, as this increases the body's absorption of iron. Alcohol avoidance is usually recommended.

If haemochromatosis has caused cirrhosis, the risk of liver cancer becomes higher. As a result, screening for cancer with blood tests and ultrasound should be performed every six months.

WebMD Medical Reference

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