Content Starts Here
Alpha-1 antitrypsin deficiency
Written by Dr David Maxton, gastroenterologist
Adult liver disease
The symptoms of liver disease due to alpha-1 antitrypsin deficiency in adults are similar to those in older children. But the disease may not become apparent for years. The symptoms are the same as with any other liver cirrhosis: jaundice, abdominal swelling, bleeding into the gut and, ultimately, coma.
Alpha-1 antitrypsin deficiency is associated with an increased risk of hepato-cellular carcinoma or primary liver cancer. This cancer may be the first sign of disease.
Disease in alpha-1 antitrypsin carriers
It is unclear whether heterozygous carriers, eg those with one abnormal gene, are more prone to develop liver disease. Some liver disease currently of unknown cause may be due to alpha-1 antitrypsin deficiency.
Alternatively, reduced alpha-1 antitrypsin may worsen or increase susceptibility to liver disease due to other causes such as infection or alcohol.
How is alpha-1 antitrypsin deficiency diagnosed?
As with any uncommon condition, an important factor is for your doctor to consider the diagnosis.
Liver disease is rare in children, so alpha-1 antitrypsin deficiency will probably spring to mind. But it may be overlooked in adults, as there are many more common causes of liver disease.
Many cases are probably never diagnosed. It has been suggested that only 5 per cent of UK sufferers are ever identified. However, alpha-1 antitrypsin deficiency is relatively easy to detect by testing the blood alpha-1 antitrypsin levels. The next step is to identify the exact alpha-1 antitrypsin variant. This can be done by examining cells taken from a liver biopsy under a microscope.
Family screening
Genetic counselling for affected families is recommended, as well as tests to identify relatives at risk. Prenatal diagnosis is possible, but may not predict the future severity of the disease.
What else could it be?
In adults
What can your doctor do?
Liver disease in children is unusual, so referral to a hospital specialist would be necessary. Children may also require referral to a centre specialising in liver diseases in children.
In adults, lung and liver disease are often jointly managed by GPs and hospital specialists.
Good advice
What treatment is available?
If conventional long-term treatment does not prevent chronic progressive disease in the liver or lungs, organ transplantation may be considered.
In end-stage emphysema, single lung transplantation is an option. Alpha-1 antitrypsin deficiency is the most common genetic disease requiring liver transplantation in children. But very few children with alpha-1 antitrypsin deficiency ever require a liver transplant.
Those who do have a good outlook with 90 per cent surviving one year and 80 per cent surviving five years. Results in adults are not so good, possibly due to associated lung complications. Specific therapy for alpha-1 antitrypsin deficiency is difficult. Regular infusions of alpha-1 antitrypsin have been used, which should particularly help the lung disease. However, prolonged benefit has not been established.
Alpha-1 antitrypsin replacement therapy is not currently available in the UK. There has also been research into gene therapy but trials have so far been disappointing.
How do you live with alpha-1 antitrypsin deficiency?
Liver function should be assessed by examination and blood tests, and further scans may be needed. Lung function can be measured by breathing tests, chest X-ray and CT scans.
Your GP is unlikely to be able to fully diagnose alpha-1 antitrypsin deficiency.
It is extremely important to stop smoking. Smoking greatly increases the lung damage in alpha-1 antitrypsin deficiency.
The standard treatment for emphysema is with inhaled medicines and antibiotics, which may be required to treat infections. Similarly, therapy for cirrhosis and liver failure of any cause will be given.
The outlook for patients with alpha-1 antitrypsin deficiency is good. Many people do not even know they have the condition. Progressive liver or lung disease affects only a minority but can be serious, so patients need monitoring regularly.
<<Go To Page 1
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. The materials in this web site cannot and should not be used as a basis for diagnosis or choice of treatment. Conditions for use
© Copyright 1998 - 2004 NetDoctor.co.uk - All rights reserved
StayQuit is a medically proven smoking cessation programme that gives you the tools you need to quit smoking for good.
Font size
Mail
My account
Help
Community
Print now
Send to a friend
Related articles
Related products
