What people with lung manifestations should know about Alpha-1

Posted Monday, July 27, 2026 12:01 pm

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Key Takeaways:

Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic disease causing the liver to produce insufficient or dysfunctional alpha-1 protein, which can leave the lungs less protected from infection and pollutants.¹
Symptoms of Alpha-1 are similar to other respiratory diseases, making the condition difficult to diagnose.²
Alpha-1 can impact lung health and lead to serious lung diseases like COPD or emphysema.²Risk can be impacted by multiple factors such as levels of Alpha-1, lifestyle and environment.
People with COPD, people with asthma and airflow obstruction that doesn't fully reverse with treatment and family members of anyone with Alpha-1 should ask about getting tested.²

Daryl Kunz loves distance cycling. By age 54, he had clocked thousands of miles annually, winning a regional championship in a 24-hour bike race and several other medals. He was used to cycling long distances, and considered a "century" (100 miles) an enjoyable outing. But one day, on a brisk 60-mile ride, Daryl began experiencing shortness of breath and wheezing for the first time.

These symptoms led to a multi-year journey of frustration. Doctors prescribed medications for asthma and tested for potential heart conditions, but Daryl was no closer to understanding what was happening.

"I went through four years of searching and changing my lifestyle, making me fear I could potentially lose something I absolutely love doing," said Daryl.

Finally, his pulmonologist tested him for Alpha-1 antitrypsin deficiency (Alpha-1), a rare genetic disease that can impact lung health and cause conditions like chronic obstructive pulmonary disease (COPD).² Daryl was told that his lung capacity was reduced to 58%, and it was likely that his avid cycling helped him to stay as healthy as possible despite his condition.

"Without knowing it, my passion for cycling actually helped slow the damage to my lungs," said Daryl. "This made me realize how lucky I was to receive my diagnosis when I did so I could get back on track."

What is Alpha-1?

Alpha-1 occurs when the body cannot make or use enough alpha-1 antitrypsin,¹ a protective protein made in the liver. This protein travels through the bloodstream to the lungs, where it helps protect lung tissue from damage. When alpha-1 protein levels fall below the normal range, individuals may be at an increased risk for lung disease. This risk may be impacted by several factors, including genetics, lifestyle and environmental exposures.²

It's estimated between 70,000-100,000 people in the U.S. live with severe Alpha-1 but as many as 90% of these individuals aren't diagnosed.³ As one of the most underdiagnosed genetic diseases in the world, it can take as long as eight years to be correctly diagnosed.⁴

The overlap of Alpha-1 symptoms with many common lung conditions, including COPD, emphysema, asthma and bronchiectasis can make an accurate diagnosis challenging.

How does Alpha-1 affect daily life?

The most common symptoms of Alpha-1 are breathing related, and include⁵:

Shortness of breath/wheezing
Chronic cough
Tiredness/fatigue
Frequent respiratory infections like cold or flu

The disease can also impact the liver,⁶ which can cause symptoms such as jaundice (yellowing of the skin), weight loss, vomiting and more.

The overlap of Alpha-1 symptoms with many common lung conditions, including COPD, emphysema, asthma and bronchiectasis can make an accurate diagnosis challenging. And while Alpha-1 is often associated with lung and liver complications, and in some cases can impact other parts of the body.²

If left unaddressed, Alpha-1 leaves patients at continued risk for potential irreversible lung damage.²Risk can be impacted by multiple factors such as levels of Alpha-1, lifestyle and environment.

Getting tested for Alpha-1

Diagnosing Alpha-1 requires testing². A genetic test can identify a specific gene mutation and a blood test can measure both genotype and alpha-1 antitrypsin level.

Some risk factors² that mean you should consider asking to be tested for Alpha-1 include:

Lung manifestations such as obstructive lung disease (COPD), or asthma with airway obstruction that doesn't respond to treatment.
Family history of lung or liver disease with no known cause.
A family member with Alpha-1.

Getting an early diagnosis allows patients to work with their doctors to better understand their symptoms and take steps to protect their lungs, including quitting smoking, maintaining updated vaccinations to avoid respiratory infections and avoiding jobs or places with harmful fumes and pollutants.²

"I look back and think, what if I'd been tested for Alpha-1 back when I first started struggling with my breathing," noted Daryl. "The diagnosis helped explain what my issues had been. And knowing there's changes I can make to my lifestyle gave me optimism that I could live with this condition."

The next endurance challenge

The more Daryl learned about his genetic condition, the better he understood how he could make an impact for his community. His new passion is educating others who might have Alpha-1 and spreading the word about the importance of screening.

"There comes a time when you take a negative and turn it into a positive," added Daryl. "After my diagnosis, I had a gift of knowledge, and I could educate and pass this along to people I cared about."

To learn more about Alpha-1, visit RethinkAlpha1Protection.com.

MAT-US-2607425-v1.0-07/2026

[1] Alpha-1 antitrypsin deficiency. MedlinePlus Genetics website. https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/. Accessed April 2026.

[2] Meseeha M, Attia M, Sankari A. Alpha 1 antitrypsin deficiency. PubMed. Published 2023. https://www.ncbi.nlm.nih.gov/books/NBK442030/. Accessed April 2026.

[3] Greulich T, Vogelmeier CF. Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Ther Adv Respir Dis. 2016;10(1):72-84.

[4] James K. Stoller, MD, MS. Cleveland Clinic Journal of Medicine March 2026, 93 (3) 153-157; DOI: https://doi.org/10.3949/ccjm.93a.25103. https://www.ccjm.org/content/93/3/153#T1. Accessed June 2026.

[5] Alpha-1 Antitrypsin Deficiency Symptoms, Causes and Risk Factors. www.lung.org. https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/symptoms-diagnosis. Accessed April 2026.

[6] Tanash HA, Piitulainen E. Liver disease in adults with severe alpha-1-antitrypsin deficiency. J Gastroenterol. 2019;54(6):541-548. doi:10.1007/s00535-019- 01548-y.