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Lung diseases

Alpha-1 antitrypsin deficiency (AATD)

An inherited disease in which a protein that protects the lungs and liver is low. Emphysema, which is lung damage, or liver disease can occur at an early age.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, German, English, Spanish, Italian). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Lung diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Alpha-1 antitrypsin is a protein made in the liver. It protects the lungs from one of the body's own powerful enzymes. If this protein is low or faulty, the air sacs in the lungs are damaged. The faulty protein can build up in the liver and strain it as well. Cigarette smoke speeds up lung damage.

Which symptoms can occur?

Lung symptoms usually begin between the ages of 25–50. Some people never have any symptoms.

  • Shortness of breath with light exertion (common)
  • Wheezing and cough
  • Frequent lung infections
  • Tiredness, unintended weight loss
  • Jaundice in babies (in about 1 in 10)
  • Hardening of the liver, called cirrhosis, in adults (in about 15 in 100)
  • Painful hard lumps in the skin (rare)

How is it diagnosed?

The level of alpha-1 antitrypsin in the blood is measured. A genetic test determines the gene type. Lung tests and a CT scan show the damage. This test is recommended for people who have COPD at a young age or without smoking.

Treatment and care

Never smoking, or stopping, is the most important step. There is an approved treatment that replaces the missing protein through a vein. This is called replacement therapy. Lung and liver problems are also treated separately. In severe cases, a lung or liver transplant may be done. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is inherited in a codominant way. Severe deficiency requires two faulty genes; one comes from the mother and one from the father. People with one faulty gene have slightly low protein. For two carrier parents, the chance of a child with severe deficiency in each pregnancy is 1 in 4. This chance can be higher when parents are related by blood. Testing of brothers and sisters and genetic counselling are recommended.

Source: MedlinePlus Genetics: Alpha-1 antitrypsin deficiency · MedlinePlus: Alpha-1 antitrypsin deficiency · Orphanet: Alpha-1-antitrypsin deficiency (ORPHA:60)

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Any age
Gene(s) involved
SERPINA1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Alpha-1 deficiency

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 17 active interventional studies for this disease. 8 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lung diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:60 · ICD-11 5C5A

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.