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Genetic Conditions
Liver cells

Genetic Conditions

The most common genetic conditions include:

A1 Antitrypsin deficiency

This is a lack of alpha 1 Antitrypsin protein (AAT). AAT is normally made in the liver and released into the bloodstream to protect the lungs. AAT deficiency (AATD) occurs in about one in 2,500 people. 15 per cent of adults with AAT have cirrhosis of the liver.


The deficiency can show up as lung disease in adults. Cirrhosis (scarring) of the liver is indicated by a swollen tummy, coughing up blood, swollen feet or legs, and jaundice.


Testing for AATD is through a blood sample taken when a physical examination suggests a lung disease such as COPD or emphysema.

Treatment and prognosis/outlook

Treatments are largely geared to managing the symptoms. This is likely to mean caring for your lungs as well as your liver. The disease is progressive and regular monitoring is required – liver transplantation is not uncommon.


With this condition iron, which cannot be properly excreted, builds up in the organs. It is thought to affect about one in 200 people.


The symptoms may be uncomfortable and include: nausea, abdominal (tummy) pains, constipation as well as pain in your joints. The condition can lead to heart failure and diabetes as well as liver damage.


It can be difficult to diagnose because symptoms are similar to other conditions. Various blood tests will be used and a liver biopsy may also be needed.

Treatment and prognosis/outlook

Treatment is based around reducing the amount of iron in the body. This is done through diet (cutting out all iron rich food sources) and through regularly draining off iron-rich red blood cells (removing blood). Because this is a progressive disease, a liver transplant may be required at some point although if treatment has started early enough the body’s iron stores should return to normal and symptoms will improve.

Wilson’s Disease

About one in 40,000 people get Wilson’s Disease. Here too much (harmful) copper is deposited in the liver causing cell destruction. When the copper storage limit of the liver is exceeded copper is released into the bloodstream and so finds its way to other organs.


Wilson’s Disease might first attack the liver, the central nervous system (CNS) or both. The signs or symptoms include fatigue, a build-up of fluid in the legs or abdomen, jaundice, and an enlarged liver or spleen.

There may also be neurological symptoms associated with the build-up of copper in the CNS. These include: muscle stiffness, speech difficulties and tremours.

Diagnosis and treatment

Diagnosis is through a physical examination and laboratory tests. This disease can be treated by preventing the body from absorbing copper through a regime of drug therapy (so called ‘chelation therapy’). Liver transplantation may ultimately be needed but this depends on how the symptoms develop over time.


Whilst the disease requires life-long treatment, if caught early enough and treated appropriately people can usually expect normal health and a normal life span. Without treatment life expectation will be shortened.

To arrange a consultation with a liver consultant please contact The Princess Grace Hospital, Liver, Bile Duct and Pancreas Unit