Alpha-1 Antitrypsin Deficiency

It is inherited. A child gets one copy of the gene (SERPINA1) from each parent. The most serious liver and lung problems usually come with two faulty copies, most often the type called PiZZ. People with one faulty copy are usually healthy carriers but may have a mild increase in risk, especially together with other liver risks such as alcohol, obesity or viral hepatitis. Smoking greatly increases lung damage.

It is thought to be under-recognized, and is often missed or mistaken for asthma, COPD or other liver diseases. It is found in many populations around the world, though the pattern differs from place to place. Babies and children can be affected too.

A blood test measures the level of AAT, and a test for the protein type or a genetic test identifies the exact variant (phenotype or genotype). Liver tests, ultrasound, FibroScan and sometimes biopsy assess liver scarring; lung function tests and imaging assess the lungs. Family members may be offered screening.

Protecting your lungs and liver is the most useful step you can take.

• Never smoke and avoid second-hand smoke, shisha and dust or chemical fumes

• Avoid or limit alcohol; ask your doctor what is safe

• Keep a healthy weight and stay active

• Get vaccinated: hepatitis A and B, flu and pneumococcal, as advised

• Consider family screening and genetic counselling

There is no special diet for this condition, but general liver-friendly eating helps.

• Eat a balanced diet with fruit, vegetables, whole grains and lean protein

• Limit sugary drinks and fatty foods to protect against fatty liver

• Reduce salt if you have fluid build-up in cirrhosis

• In babies and children, nutrition advice from a specialist team is important

There is currently no medicine that removes the liver problem, and treatment focuses on complications. Your doctor decides what is suitable.

• Medicines for complications of cirrhosis such as fluid build-up or swollen veins

• Inhalers and lung medicines for lung disease, as prescribed

• For selected people with lung disease, a replacement therapy of the missing protein (augmentation) may be considered by lung specialists; it does not treat the liver

• Check with your doctor before using painkillers or herbal products

Procedures depend on the organ involved.

• Regular ultrasound surveillance for liver cancer if cirrhosis is present

• Endoscopy to check and treat swollen veins

• Liver transplant for end-stage liver disease; lung transplant assessment in severe lung disease

The outlook differs greatly between individuals. Many people with this condition never develop serious liver disease. Those who do need long-term care, and liver transplant is an option for end-stage disease. Avoiding smoking and alcohol makes a major difference.

• Which type do I have, and what does it mean for my liver and lungs?

• How often do I need liver and lung checks?

• Should my children and relatives be tested?

• Which vaccines do I need?

• Is alcohol safe for me in any amount?

This guide comes from the Saudi Gastroenterology Association (SGA) patient library, prepared by the Approved for publication by SGA; individual clinician review is ongoing. Last reviewed: 2026-04-24. It is for education and does not replace your doctor's advice.