Alpha-1 antitrypsin deficiency

Overview

Alpha-1 antitrypsin deficiency (often called AATD) is an inherited condition that can damage your lungs and liver. It happens when your body does not make enough of a special protein that protects these organs. Over time, this can lead to breathing problems like emphysema, or liver damage, or both.

AATD is rare. It is estimated to affect about 1 in 2,500 people in some populations, but many people do not know they have it because symptoms can be mild or take years to appear.

AATD affects both men and women equally. It can cause lung problems in adults, usually starting between the ages of 20 and 50, and it can cause liver problems in children and adults.

Symptoms

Common symptoms

• Shortness of breath, especially during activity
• A chronic cough that does not go away
• Wheezing or a whistling sound when you breathe
• Feeling unusually tired or weak
• Frequent chest infections or colds
• If the liver is affected: yellowish skin or eyes, swollen belly, or swollen legs

Symptoms in children

• Yellowing of the skin and eyes (jaundice)
• A swollen belly or enlarged liver
• Poor weight gain or slow growth
• Dark urine or light-colored stools

Symptoms in older adults

• Breathing problems similar to COPD, but that may worsen more quickly
• More frequent lung infections
• Increased tiredness and reduced energy
• Signs of liver damage, such as bruising easily or swelling in the legs

Causes

Main causes

• A change (mutation) in the gene that tells your body to make alpha-1 antitrypsin protein.
• You need to inherit the faulty gene from both parents to have the condition.
• If you have only one faulty gene, you are called a carrier and usually have no symptoms, but you can pass the gene to your children.

Risk factors

• Having a family member with AATD or a known genetic change.
• Smoking — this greatly increases the risk of lung damage.
• Being exposed to dust, fumes, or other lung irritants at work or at home.
• Having liver disease of unknown cause.

When to see a doctor

See a doctor urgently if:

• If you have sudden or worsening breathlessness, chest pain, or you cough up blood.
• If you notice jaundice (yellow skin or eyes) or a swollen belly that comes on quickly.

Book a routine appointment if:

• If you have a long-term cough, wheeze, or feel short of breath more easily than before.
• If a close family member has been diagnosed with AATD, ask your doctor about testing.
• If you have unexplained liver problems, such as abnormal liver blood tests.

Diagnosis

A doctor can diagnose AATD with a simple blood test. The test checks the level of alpha-1 antitrypsin protein in your blood and can look for the specific gene change. If the test is positive, you may be referred to a specialist for further checks of your lungs and liver.

Tests that may be done

• Blood test to measure the alpha-1 antitrypsin protein level
• Genetic test to confirm the gene change
• Lung function tests (spirometry) to check how well your lungs work
• Liver function blood tests to check liver health
• Imaging scans, such as a chest X-ray or CT scan, to look at your lungs

What to expect at your appointment

The blood test is quick and routine. If you are found to have AATD, your doctor will explain what this means for your health. You may be offered genetic counseling to help you and your family understand the condition and the risk to other relatives.

Treatment

There is no cure for AATD, but there are many ways to slow lung damage, manage symptoms, and protect your liver. Treatment is tailored to how your body is affected, and your healthcare team will work with you to create a plan.

Self-care at home

• Do not smoke, and avoid secondhand smoke and other lung irritants like dust and fumes.
• Stay active with gentle exercise such as walking, as approved by your doctor.
• Get vaccinated against flu, pneumonia, and other infections to protect your lungs.
• Follow a healthy, balanced diet and limit alcohol to help your liver.
• Keep up with regular check-ups so any changes are caught early.

Medical treatments

For people with lung disease, doctors may offer augmentation therapy – regular infusions of the missing protein to help protect the lungs. Other treatments include inhaled medications to open the airways, and oxygen therapy if blood oxygen levels become low. For liver disease, management focuses on regular monitoring, a healthy lifestyle, and treating complications. Your doctor will decide what is right for you based on your test results and symptoms.

When is surgery considered?

In very severe cases, surgery may be needed. A lung transplant or liver transplant can be life-saving for people whose organs have failed, but this is only considered when other treatments are no longer enough. Your specialist will discuss this option with you if it becomes relevant.

Living with this condition

Living with AATD means paying attention to your body and protecting your lungs and liver. You may need to pace yourself on tired days, avoid respiratory infections, and keep up with your medical appointments. With good support and care, most people continue to work, travel, and enjoy life.

Lifestyle tips

• Join a pulmonary rehabilitation program to learn safe ways to exercise and breathe.
• Wash your hands often and avoid crowds during cold and flu season.
• Make your home smoke-free and well-ventilated.
• If you have liver involvement, avoid alcohol completely and check medications with your pharmacist.

Diet and exercise

Aim for a balanced diet with plenty of fruits, vegetables, whole grains, and lean protein. If you are losing weight, talk to a dietitian. For exercise, gentle activities like walking or swimming can strengthen your heart and lungs – start slowly and build up as you feel able.

Mental health and emotional wellbeing

Living with a long-term condition can be stressful and sometimes frightening. It is normal to feel anxious or low. Talk to your healthcare team about your feelings – they can connect you with counseling or support groups. You don't have to face it alone.

Prevention

You cannot prevent the genetic condition itself, but you can prevent or delay many of its complications. Not smoking, avoiding lung irritants, getting regular check-ups, and treating infections early can make a big difference. If you know you carry the gene, your healthcare team can help you make a plan.

Vaccines

People with AATD should stay up to date with recommended vaccines, especially those that protect the lungs, such as the flu vaccine, pneumonia vaccine, and COVID-19 vaccine. Talk to your doctor or local pharmacist about which vaccines are right for you.

Screening programmes

If you have a family member with AATD, testing is recommended even if you feel well. Early detection helps you protect your health before any damage happens.

Complications

If left untreated

• Progressive lung damage, leading to severe breathlessness (emphysema)
• Recurrent lung infections
• Liver damage that may progress to cirrhosis or liver failure
• Increased risk of a collapsed lung (pneumothorax)

Long-term outlook

AATD is a lifelong condition, but many people live active and fulfilling lives with proper medical care and good self-care. The outlook has improved with earlier diagnosis and better treatments. If you take care of your lungs and liver and stay in close contact with your healthcare team, you can manage the condition well.

Find support

External links open third-party websites. Ruqelo Health is not responsible for external content. Listing an organisation does not imply endorsement.