Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can affect the liver and lungs. It happens when your body either doesn’t make enough alpha-1 antitrypsin protein or makes a faulty version of it.

Alpha-1 antitrypsin (AAT) is a protein that your liver makes. Normally, it travels through your bloodstream to protect your lungs from inflammation and damage caused by irritants like cigarette smoke, air pollution, dust or fumes.

When your body does not make enough healthy AAT, abnormal AAT protein can build inside liver cells. Over time, this buildup can damage your liver so it doesn’t work properly. Without enough AAT, you may also be at higher risk for lung conditions like emphysema and chronic obstructive pulmonary disease (COPD).

Alpha-1 is a lifelong condition but it affects people differently. Some people never develop serious lung or liver disease, especially if they avoid smoking.

Causes and risk factors

AATD is inherited and passed down through families. Changes in the SERPINA1 gene affect how your body makes the AAT protein and how well it works.

Risk factors may include:

• One or both parents who have the condition
• Family history of liver or lung disease
• Other factors that stress the liver, such as alcohol use or fatty liver disease 
• Carrying a mutation of the SERPINA1 gene, which can also slightly increase the risk for lung problems, especially if you smoke
• Being of Central or Northern European backgrounds, although anyone in any racial or ethnic group can have Alpha-1 antitrypsin deficiency

Smoking or vaping and exposure to secondhand smoke, dust, chemicals or air pollution increase your risk of lung problems from Alpha-1.

Signs and symptoms

You can have symptoms at any age. Symptoms vary widely and depend on your age and the amount of liver damage.

Some people have no symptoms and are diagnosed through family screening or routine blood tests. Some people have mainly liver symptoms, while others have lung symptoms.

In infants and children, symptoms may include:

• Yellowing of the skin or eyes (jaundice) that does not go away after the newborn period
• Dark urine
• Pale stools
• Poor weight gain
• Swollen abdomen
• Abnormal liver blood tests

In adults, symptoms may include:

• Fatigue
• Abdominal discomfort
• Swelling in the legs or belly
• Easy bruising or bleeding
• Cirrhosis or liver failure 
• Shortness of breath
• Wheezing
• Chronic cough, which may bring up mucus
• Frequent chest colds or lung infections such as bronchitis or pneumonia

How it’s diagnosed

Many people with Alpha-1 antitrypsin deficiency are not diagnosed for years. That’s because symptoms can look like asthma, smoking-related COPD or fatty liver disease. If you have family members with Alpha-1 antitrypsin deficiency, it’s a good idea to be screened.

Your provider may also recommend testing for Alpha-1 antitrypsin deficiency if you have:

• COPD or emphysema at a young age
• Asthma that is hard to control
• Unexplained liver disease
• Bronchiectasis (chronic damage and widening of the airways) without a clear cause
• Panniculitis (painful lumps or sores under the skin) 
• Vasculitis (inflammation of blood vessels)

Tests may include:

• Blood tests to measure alpha-1 antitrypsin levels 
• Genetic testing to look for common SERPINA1 variants (such as S and Z types) and to sequence the gene in more detail 
• Liver function blood tests
• Imaging tests such as ultrasound or MRI
• Liver biopsy, in some cases
• Lung function tests, chest X-rays or CT scans to check for emphysema or other lung changes, if you have lung symptoms

Early diagnosis helps your health care team care for you and monitor your progress and can guide testing and counseling for your family members.

Treatment and care

There is no cure for AATD. Treatment focuses on protecting the liver and lungs and managing symptoms.

Care may include:

• Monitoring your liver and lung health
• Avoiding alcohol and other substances that can harm the liver
• Not smoking or vaping 
• Avoiding secondhand smoke, pollution, dust, fumes and other lung irritants 
• Managing related conditions such as fatty liver disease
• A healthy lifestyle and good nutrition
• Flu, pneumonia, COVID-19 and hepatitis A and B vaccines
• Medications for lung disease
• Specialized liver care, including possible liver transplant for more advanced liver disease
• Genetic counseling for you and your family

Complications and advanced disease

Not everyone with the condition develops severe problems but lifelong follow-up is important. Without the right monitoring and care, AATD can lead to:

• Chronic liver disease
• Cirrhosis
• Liver failure
• Increased risk of liver cancer 
• Lung diseases such as emphysema, chronic bronchitis and COPD
• Pulmonary hypertension (high blood pressure in the lungs)
• Bronchiectasis 
• Panniculitis 
• Vasculitis

When to talk to a specialist

You may be referred to a gastroenterologist (digestive system specialist) or hepatologist (liver specialist) as well as a pulmonologist (lung specialist) if:

• Your liver tests are abnormal
• You have symptoms that could be from liver damage
• You have a known family history of alpha-1 antitrypsin deficiency, or a close relative with early, unexplained liver or lung disease
• You need long-term liver monitoring
• You have COPD, emphysema, asthma that is hard to control or bronchiectasis, especially if you don’t smoke.

Specialists can help you make treatment decisions and spot signs of complications early.

Find care at Banner Health

Banner Health offers expert care for genetic liver conditions like alpha-1 antitrypsin deficiency. Our specialists work together to monitor your liver health, lower your risk for complications and support your long-term care. Schedule an appointment with one of our specialists.