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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 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.

  • Diagnosis icon plus

    Your consultant 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.
Consultant with patient

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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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