Screenings for people with alpha-1 antitrypsin deficiency

The main guidance

In the US, the Alpha-1 Foundation published clinical practice guidelines in 2016 to update the 2003 American Thoracic Society and European Respiratory Society statement; they cover who to test, lung and liver checks and family testing. (Alpha-1 Foundation, 2016) The Canadian Thoracic Society guideline on targeted testing dates from 2012. (Canadian Thoracic Society, 2012) In Europe, the European Respiratory Society 2017 statement says care should be supervised by national or regional expert centres, (ERS statement, 2017) and in 2024 the European Alpha-1 Research Collaboration (EARCO), an ERS initiative, published a Delphi consensus of 38 lung specialists from 15 countries on lung and liver monitoring. (EARCO Delphi consensus, 2024) In the UK, NICE covers AATD inside its COPD guideline and recommends offering people with AATD referral to a specialist centre. (NICE NG115) The Alpha-1 Foundation and Canadian recommendations rest mostly on low quality evidence.

Who guidance says should be tested

• People with COPD. The Alpha-1 Foundation says all people with COPD, regardless of age or ethnicity, should be tested. (Alpha-1 Foundation, 2016) The Canadian guideline suggests testing people with COPD diagnosed before 65 or with a smoking history of under 20 pack years. (Canadian Thoracic Society, 2012) NICE uses a serum AAT test when COPD starts early, the smoking history is minimal or there is a family history. (NICE NG115) See screenings if you have COPD and spirometry and COPD screening.
• People with liver disease. The Alpha-1 Foundation says everyone with unexplained chronic liver disease should be tested. (Alpha-1 Foundation, 2016) MedlinePlus says a provider may suspect AATD with cirrhosis that has no other cause or with a family history of liver disease. (MedlinePlus)
• Some other conditions. The Alpha-1 Foundation adds necrotizing panniculitis, granulomatosis with polyangiitis and unexplained bronchiectasis. (Alpha-1 Foundation, 2016) The Canadian guideline suggests not testing people with bronchiectasis or asthma. (Canadian Thoracic Society, 2012)
• How the test is done. For people with symptoms, the Alpha-1 Foundation recommends genotyping for at least the S and Z variants, with further testing such as Pi-typing, an AAT level or expanded genotyping to confirm. (Alpha-1 Foundation, 2016)

Checks the guidelines list for adults with AATD

Lungs. The Alpha-1 Foundation recommends complete lung function testing at diagnosis for everyone with AATD, though a minority of its committee thought spirometry alone may be enough for people without symptoms. It recommends yearly spirometry for adults whose baseline spirometry is normal, to pick up faster than expected loss of lung function early. It recommends a baseline chest CT for newly diagnosed people who have symptoms or abnormal lung tests, and does not recommend repeat CT scans to follow the disease. (Alpha-1 Foundation, 2016) The EARCO consensus lists yearly spirometry, yearly lung volume (body box) testing and a yearly diffusion test for people with no symptoms or stable disease, and a high-resolution CT at baseline and when symptoms appear or the disease seems to change. For worsening disease it says no fixed spirometry interval can be recommended, and it reached no agreement on how often low-dose CT should be used to measure lung density. (EARCO Delphi consensus, 2024) See spirometry and COPD screening.

Lung cancer. The Alpha-1 Foundation says its CT advice is not meant to conflict with lung cancer screening guidelines, which use regular low-dose CT for people with a significant smoking history. (Alpha-1 Foundation, 2016) See lung cancer screening.

Liver. The Alpha-1 Foundation recommends yearly liver monitoring, or more often if needed, with an exam for signs of liver disease, a liver ultrasound and blood tests for AST, ALT, GGT, albumin, bilirubin, INR and platelets. It notes that clinically significant liver disease is rare in adults under 40 and is mostly limited to people with the ZZ and SZ genotypes, and it cites the American Association for the Study of Liver Diseases advice of a liver ultrasound every 6 months to watch for liver cancer in people with cirrhosis. (Alpha-1 Foundation, 2016) The EARCO consensus agreed on yearly liver function tests and on referral to a liver specialist after diagnosis, but reached no agreement on when to measure liver stiffness. (EARCO Delphi consensus, 2024) A 2026 guidance from an expert panel convened by the American Gastroenterological Association with the AASLD, the European Association for the Study of the Liver and the Alpha-1 Foundation names liver stiffness measurement by elastography as the preferred way to stage scarring, with 8 kPa or more on transient elastography marking clinically significant fibrosis, and endorses the APRI and FIB-4 blood scores for sorting out low risk. (Multi-society liver guidance, 2026) See liver function test results, FIB-4 liver screening and liver cancer surveillance.

Checks for relatives

AATD is inherited in an autosomal codominant pattern: both copies of the SERPINA1 gene contribute, and most people carry two normal M copies. (MedlinePlus Genetics) The Alpha-1 Foundation says adult brothers and sisters of anyone found to carry an abnormal AAT gene, whether one copy or two, should be offered genetic counselling and testing, and that parents, children, younger siblings and the wider family should be offered it too. For family testing it says an AAT level alone is not enough. (Alpha-1 Foundation, 2016) The Canadian guideline says family members should be offered genetic counselling and AAT level testing, with attention to siblings, whose risk is 25 percent. (Canadian Thoracic Society, 2012) NICE lists screening the family as a reason for specialist referral when symptoms start under 40 or there is a family history of AATD. (NICE NG115) See family history and screening and how to collect your family health history.

When to contact a provider

Routine age-based screening

AATD checks are added to, not instead of, the routine screenings for your age and sex; see screenings by age and gender.

Where they differ:

• Who with COPD is tested. Everyone with COPD (Alpha-1 Foundation); COPD before 65 or under 20 pack years (Canada); early onset, minimal smoking history or family history (NICE). (Alpha-1 Foundation, 2016)(Canadian Thoracic Society, 2012)(NICE NG115)
• Bronchiectasis. The Alpha-1 Foundation says unexplained bronchiectasis should be tested; the Canadian guideline suggests not testing people with bronchiectasis. (Alpha-1 Foundation, 2016)(Canadian Thoracic Society, 2012)
• Family testing method. The Alpha-1 Foundation says an AAT level alone is not enough; the Canadian guideline names AAT level testing. (Alpha-1 Foundation, 2016)(Canadian Thoracic Society, 2012)
• Chest CT. The Alpha-1 Foundation limits the baseline CT to people with symptoms or abnormal lung tests; the EARCO consensus lists one at baseline for people without symptoms too. (Alpha-1 Foundation, 2016)(EARCO Delphi consensus, 2024)
• Liver. The Alpha-1 Foundation lists a yearly liver ultrasound for everyone; the EARCO consensus agreed only on yearly liver blood tests and found no agreement on the timing of liver stiffness tests. (Alpha-1 Foundation, 2016)(EARCO Delphi consensus, 2024)

Your doctor decides what your result means for you.

Questions people ask

Who should be tested for alpha-1 antitrypsin deficiency?

It depends on the guideline. The 2016 Alpha-1 Foundation guidelines say everyone with COPD, whatever their age or ethnicity, and everyone with unexplained chronic liver disease should be tested. The 2012 Canadian guideline suggests testing people with COPD diagnosed before 65 or with a smoking history under 20 pack years. NICE uses the test when COPD starts early, when there is a minimal smoking history or a family history. (Alpha-1 Foundation, 2016) (Canadian Thoracic Society, 2012) (NICE NG115)

How often are the lungs checked?

The Alpha-1 Foundation recommends complete lung function testing at diagnosis and yearly spirometry for adults whose first spirometry was normal. The 2024 European EARCO consensus also lists yearly spirometry and a yearly diffusion test for people without symptoms or with stable disease. (Alpha-1 Foundation, 2016) (EARCO Delphi consensus, 2024)

Is a CT scan of the lungs repeated?

The Alpha-1 Foundation recommends a baseline chest CT for newly diagnosed people with symptoms or abnormal lung tests, and does not recommend repeat CT scans to follow the disease. The EARCO consensus lists a CT at baseline and again if symptoms appear or the disease seems to change. (Alpha-1 Foundation, 2016) (EARCO Delphi consensus, 2024)

Is the liver checked?

Yes. The Alpha-1 Foundation recommends a yearly check with a liver exam, liver ultrasound and blood tests. The EARCO consensus agreed on yearly liver function tests and referral to a liver specialist after diagnosis. A 2026 multi-society guidance names liver stiffness measurement by elastography as the preferred way to stage liver scarring. (Alpha-1 Foundation, 2016) (EARCO Delphi consensus, 2024) (Multi-society liver guidance, 2026)

Should relatives be tested?

The Alpha-1 Foundation says adult brothers and sisters of anyone found to carry an abnormal AAT gene should be offered genetic counselling and testing, and that parents, children and the wider family should be offered it too. The Canadian guideline notes that siblings have a 25 percent risk of the deficiency. (Alpha-1 Foundation, 2016) (Canadian Thoracic Society, 2012)

Related

• Screenings for people with hereditary hemochromatosis
• Screenings if you have COPD
• Spirometry and COPD screening
• Liver function test results
• Liver cancer surveillance
• FIB-4 liver screening
• Family history: when screening starts earlier
• Screenings by age and gender
• Questions to ask your doctor