Cookies Policy

We use cookies on this website to enable you to get the best experience. If you continue without changing your settings, we'll assume that you are happy to receive cookies. To find out more about what we use cookies for, or to find out how to change your settings, please read our cookie policy.

Home Information Medical stuff Information on liver diseases Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

About alpha-1 antitrypsin

Alpha-1 antitrypsin is one of the many proteins and related substances which the body makes from food. It is produced mainly by the liver and circulated in the bloodstream.

It’s not fully understood why we need it or what its main task is, but research has shown that it has a protective role in preventing tissue damage from the over-activity of enzymes called proteases. People with alpha-1 antitrypsin deficiency produce a slightly different form of the protein which becomes trapped in the liver.

What causes alpha-1 antitrypsin deficiency?alpha-1 antitrypsin deficiency stories

A child’s ability to make alpha-1 antitrypsin is inherited through the genes passed on from both parents. Alpha-1 antitrypsin deficiency occurs when a baby inherits from both parents a gene which leads to the production of abnormal alpha-1 antitrypsin protein.

What are effects of alpha-1 antitrypsin deficiency?

There may be one of three effects:

  1. Some people seem to suffer no ill effects
  2. Others remain healthy for years, but then may develop breathing difficulties due to emphysema, leading to lung damage and an early death.
  3. Children can develop inflammation of the liver, which can cause liver damage. This usually becomes apparent in the first four months of a baby’s life.

Symptoms at this time may include:

  • Jaundice
  • Persistently yellow urine
  • Poor weight gain
  • Abnormal bleeding from the nose or umbilicus
  • Enlargement of the liver and possibly the spleen

When a child is older, alpha-1 antitrypsin deficiency may produce the following symptoms:

  • Jaundice
  • Ascites - (abnormal collection of fluid in the abdomen)
  • Portal hypertension (increased blood vessel pressure caused by scarring of the liver, which may cause blood being vomited or passed in the stools)

What are the treatments for alpha-1 antitrypsin deficiency?

There is no specific treatment and no cure for alpha-1 antitrypsin deficiency, although research is providing some promising results. Treatments currently seek to make symptoms less troublesome and include:

  • Diet – a dietitian will advise on changes to diet. These may include a special milk formula in babies; extra calories or extra vitamins.
  • Regular monitoring – it is important to regularly monitor growth and development as well as liver function. As a result, any complications will be recognised at an early stage and treated quickly.

What you should look out for

The first signs of deteriorating liver function are usually found during medical examination and in blood tests. Signs which you should be aware of and seek medical advice for are:

  • Failure to gain weight or weight loss
  • Persistent tiredness or lethargy
  • Deepening or recurrence of jaundice
  • Swollen abdomen
  • Recurrent nose bleeds
  • Any vomiting of blood
  • Any blood in the stool – may be black or red
  • Swollen ankles, especially in the evening

The future for someone with alpha-1 antitrypsin deficiency

The likelihood of a child with alpha-1 antitrypsin deficiency developing serious problems is very variable. Follow-up of children with liver disease at major centres showed that of all the babies with liver disease and alpha-1 antitrypsin deficiency:

  • 25% had no disease symptoms at the age of 10
  • 45% had continuing but variable evidence of liver disease
  • 5% needed a liver transplant in the first year of life
  • 25% needed a liver transplant at some point in childhood

Want to know more?

Download CLDF's leaflet on alpha-1 antitrypsin deficiency.

Read stories from our alpha-1 antrypsin deficiency families.

 Beth's liver story
Take on a challenge  Support information

The information on this site is for guidance only. It is not a substitute for professional medical care by a qualified doctor or other health care professional. ALWAYS check with your medical team if you have any concerns about your condition or treatment. CLDF is not responsible or liable, directly or indirectly, for any form of damages resulting from the use (or misuse) of information contained in or implied by the information on this site.