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Key takeaways:
- Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic disease that causes the liver to produce insufficient or dysfunctional alpha-1 protein, which can leave the lungs less protected from infection and pollutants.1
- Alpha-1 can affect lung health and lead to serious lung diseases like COPD or emphysema.2 Risk can be impacted by multiple factors such as levels of Alpha-1, lifestyle and environment.
- The condition can be difficult to diagnose, because its symptoms can resemble those of other respiratory diseases.2
- 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) to be an enjoyable outing. But one day, while enjoying a brisk 60-mile ride, Daryl experienced shortness of breath and wheezing for the first time.
Daryl's symptoms led to several years of frustration. Doctors prescribed medications for asthma and tested him for potential heart conditions, bringing Daryl no closer to understanding what was really going on.
"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.
His pulmonologist finally 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 learned that his lung capacity was reduced to 58%, but 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 an individual's genetics, lifestyle and environmental exposures.2
An estimated 70,000-100,000 people live with severe Alpha-1 in the U.S., but as many as 90% of these individuals haven't been diagnosed.3 Alpha-1 is one of the most underdiagnosed genetic diseases in the world, and can take as long as eight years to be correctly diagnosed.4
I look back and think, what if I'd been tested for Alpha-1 when I first started struggling with my breathing? Knowing there's changes I can make to my lifestyle gave me optimism that I could live with this condition.
Ways Alpha-1 can affect daily life
Common symptoms of Alpha-1 are mostly breathing related, including:5
- Shortness of breath/wheezing
- Chronic cough
- Tiredness/fatigue
- Frequent respiratory infections like cold or flu
Alpha-1 can also affect the liver,6 which may cause symptoms like jaundice (yellowing of the skin), weight loss, vomiting and more. The similarity of Alpha-1 symptoms with many common lung conditions, including COPD, emphysema, asthma and bronchiectasis can make it difficult to diagnose it accurately. 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 the disease remains unaddressed, Alpha-1 leaves patients at continued risk for potential irreversible lung damage.2 Risk can be impacted by multiple factors such as levels of Alpha-1, lifestyle and environment.
Testing for Alpha-1
Diagnosing Alpha-1 requires testing.2 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 indicate you should consider getting tested for Alpha-1 are:
- 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 help 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."
Learn more about Alpha-1 at RethinkAlpha1Protection.com.
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[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.
