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Genetic liver conditions

Inherited liver disease

Genetic liver conditions can cause a range of problems in your body, in the liver primarily, as well as other organs

About genetic liver conditions

Genetic liver conditions include haemochromatosis, alpha-1 antitrypsin (AAT) deficiency and Wilson disease. They occur as a result of too much iron, a lack of the AAT protein, or a build-up of copper, respectively, in the body. Each of these diseases can cause a range of complications in your body, not only in the liver, but also other organs.

Need to know

  • Symptoms of genetic liver conditions icon plus

    In haemochromatosis, the build-up of iron in the body happens slowly and symptoms don't usually show until you are between 40 and 60 years old. Symptoms include:

    • fatigue
    • joint pain
    • abdominal pain
    • loss of libido
    • fibrosis, cirrhosis
    • cardiomyopathy (disease of the heart muscle)
    • a yellowing or ‘bronzing’ of the skin

    Children with AAT deficiency often have poor appetite and fail to thrive. In adults, the disease can present as lung disease.

    In Wilson disease, the toxic effects of copper accumulation can lead to disabling physical symptoms, including:

    • loss of muscle control and coordination
    • contractions and tremors
    • slowness of movement (bradykinesia)
       
  • Diagnosis icon plus

    Your consultant will discuss your symptoms with you and may recommend tests to aid diagnosis. Tests to diagnose haemochromatosis, AAT deficiency and Wilson disease include:

    • Blood tests to measure the iron (transferrin saturation, and serum ferritin), AAT protein level of phenotype, and caeruloplasmin and copper levels in your system.
    • Liver function tests (LFTs) that measure the enzymes ALT and AST which are elevated in the blood during liver inflammation.
    • A urine test to measure copper excretion.
    • MRI or CT scans to examine the basal ganglia (which controls the body’s movements) and the abdomen.
    • Liver biopsy where a tiny piece of the liver is taken for study.
    • Genetic testing.
     
  • Treatment options icon plus

    Your consultant will discuss your treatment options with you to help determine the best approach for you. These will depend on your diagnosis:

    • Phlebotomy for haemochromatosis: Roughly 500ml of blood is drained from your arm, which includes iron in red blood cells. This causes the remaining stored iron to make new red blood cells.
    • Supportive treatment in AAT deficiency aimed at reducing symptoms and slowing disease progression. Prompt medical attention at the first signs of lung infection are vital.
    • Chelation therapy in Wilson disease: The drugs D-penicillamine or trientine dihydrochloride (syprine) are given to remove copper from your body.

     

Types of genetic liver conditions

Haemochromatosis

In genetic haemochromatosis, inheritance of a faulty or abnormal gene is responsible for an increase in the amount of iron entering the body.

Alpha-1 antitrypsin (AAT) deficiency

This is caused by a lack of a protein in your body, and can lead to liver and lung disease.

Wilson disease

In Wilson disease, the ATP7B gene (which instructs the production of a protein that transports copper within liver cells for excretion) is mutated.
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This content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
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