Health condition
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency is an inherited shortage of a protective protein, predisposing to early emphysema and, in some people, liver disease - and one of the most underdiagnosed genetic conditions in the UK.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Caused by variants in the SERPINA1 gene; the ZZ genotype carries the highest risk
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Test anyone with COPD diagnosed young, emphysema with little smoking history, or unexplained liver disease
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Diagnosis: a blood level of alpha-1 antitrypsin plus phenotyping or genotyping
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Not smoking is the single most important protective step; family members should be offered testing
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
Alpha-1 antitrypsin shields the lungs from the enzymes released during inflammation. In people with two deficient SERPINA1 variants, most often ZZ, levels are low and the lungs are gradually damaged, classically producing basal emphysema in the thirties to fifties, dramatically accelerated by smoking. The abnormal Z protein can also accumulate in the liver, so some individuals present with fibrosis or cirrhosis instead of, or as well as, lung disease.
Testing, surveillance and specialist care
Testing is simple, a serum level followed by genotyping, and guidelines recommend it for every person with COPD at least once, yet most carriers remain unidentified. A respiratory physician coordinates lung function monitoring and treatment, a hepatologist reviews the liver where indicated, and siblings and children are offered testing with genetic counselling. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a respiratory physician. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.
Frequently asked
Common questions about Alpha-1 antitrypsin deficiency.
Quick, plain-English answers to what people ask us most.
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What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is an inherited genetic condition causing low levels of a protein that protects the lungs and liver, increasing the risk of early emphysema and liver disease, particularly in smokers.
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What causes alpha-1 antitrypsin deficiency?
It is caused by mutations in the SERPINA1 gene, most significantly the ZZ genotype, which results in markedly reduced levels of functional alpha-1 antitrypsin protein.
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What are the symptoms of alpha-1 antitrypsin deficiency?
Lung symptoms include breathlessness and wheeze, often appearing at a younger age than typical emphysema, while liver involvement can cause jaundice, abdominal swelling, or abnormal liver blood tests.
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Is alpha-1 antitrypsin deficiency dangerous?
Yes, it significantly increases the risk of early, severe emphysema, especially in smokers, and can also cause serious liver disease, including cirrhosis, in some individuals.
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Is alpha-1 antitrypsin deficiency genetic?
Yes, it is an inherited condition, with severity depending on the specific combination of gene variants inherited from each parent.
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Can alpha-1 antitrypsin deficiency be treated?
There is no cure, but never smoking, augmentation therapy (replacing the missing protein) for eligible patients, and standard treatment of any lung or liver complications can significantly help manage the condition.
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How is alpha-1 antitrypsin deficiency treated?
Treatment includes strict smoking avoidance, standard respiratory treatments for any lung disease, intravenous augmentation therapy for eligible patients with significant lung disease, and monitoring or specific treatment for liver involvement.
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How is alpha-1 antitrypsin deficiency monitored?
Monitoring typically includes regular lung function tests, periodic liver function blood tests and imaging, and clinical review to track disease progression and adjust management.
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Alpha-1 antitrypsin deficiency vs typical COPD from smoking — what's the difference?
Typical smoking-related COPD develops gradually over decades of smoking, usually in older adults, while alpha-1 antitrypsin deficiency causes emphysema to develop much earlier in life, even in non-smokers, due to the underlying genetic protein deficiency.
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When should I see a doctor about possible alpha-1 antitrypsin deficiency, and how quickly can I be seen privately?
See a doctor if you have early, unexplained emphysema or a relevant family history. NHS respiratory referral can take 20 to 45 or more weeks, while private specialist assessment is often available within about two weeks.