What is Alpha-1 Antitrypsin Deficiency? A Hidden Cause of Breathing Issues

July 28, 2025

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that affects the lungs and liver, often going undiagnosed or misdiagnosed for years. While relatively rare, it can lead to serious respiratory issues, particularly early-onset emphysema, even in people who have never smoked. In this article, we explore what AATD is, how it affects lung function, and how modern technology, including wearable respiratory monitoring devices, is improving diagnosis and management.

What is Alpha-1 Antitrypsin?

Alpha-1 antitrypsin (AAT) is a protein produced primarily in the liver. Its main job is to protect the lungs from inflammation caused by infection or irritants such as smoke or pollutants. Specifically, AAT inhibits neutrophil elastase, an enzyme that breaks down damaged or aging cells in lung tissue.

In individuals with AATD, mutations in the SERPINA1 gene result in either reduced production or dysfunctional forms of AAT. This leaves lung tissue vulnerable to damage, leading to chronic respiratory diseases.

“Alpha-1 is one of the most common serious hereditary disorders among adults in the U.S. and is often undetected.”
— Alpha-1 Foundation

Respiratory Impact of AATD

Because neutrophil elastase remains unchecked in the absence of sufficient AAT, it can gradually erode lung tissue, resulting in:

Emphysema, typically in the lower lungs and often before age 45
Chronic bronchitis, with persistent cough and mucus
Asthma-like symptoms, including wheezing and shortness of breath

Smoking or exposure to airborne irritants can dramatically speed up lung damage in individuals with AATD.

AATD accounts for up to 2% of all cases of COPD in the U.S. (American Thoracic Society, 2003)

Signs and Symptoms to Watch For

AATD can mimic other lung conditions. Common signs include:

Shortness of breath, especially with exertion
Frequent respiratory infections
Wheezing that doesn’t respond well to bronchodilators
Chronic cough with phlegm
Unexplained liver abnormalities (in some cases)

Because symptoms overlap with asthma or COPD, diagnosis is often delayed or missed entirely.

How is AATD Diagnosed?

Diagnosing AATD involves three steps:

Blood test to measure AAT levels
Phenotyping or genotyping to identify specific mutations
Liver function tests (in some cases)

Testing is recommended for:

Anyone diagnosed with COPD before age 45
Non-smokers with emphysema
People with a family history of AATD or unexplained liver disease

The World Health Organization (WHO) recommends testing all COPD patients for AATD at least once.

Treatment and Management

There is no cure for AATD, but proactive management can slow disease progression:

Augmentation therapy: Regular IV infusions of purified AAT protein to restore protective levels in the blood and lungs
Inhaled bronchodilators and corticosteroids for symptom control
Pulmonary rehabilitation and oxygen therapy
Vaccinations against flu and pneumococcal infections
Lung transplantation in advanced cases

The Role of Technology in Early Detection

Modern respiratory wearables offer real-time tracking of lung function, oxygen saturation, and breathing rate. Subtle trends like declining peak flow or rising respiratory rate can serve as early red flags, especially in genetically predisposed individuals.

Remote monitoring, coupled with genetic counseling, can improve early detection in asymptomatic individuals with a family history of AATD.

Final Thoughts

Alpha-1 Antitrypsin Deficiency may be underrecognized, but it is not untreatable. With early diagnosis, lifestyle adjustments, and appropriate therapy, many people with AATD live healthy, active lives. If you or a loved one has unexplained lung symptoms or a family history of respiratory disease, speak with your healthcare provider about getting tested.