November isn’t just for turkeys and thankfulness; it’s also Alpha-1 Antitrypsin (Alpha-1) Deficiency Awareness Month. If you’ve never heard of Alpha-1, you’re not alone, most people haven’t. This little-known genetic condition can quietly damage the lungs and liver, often hiding behind diagnoses like asthma or chronic obstructive pulmonary disease (COPD). According to the Alpha-1 Foundation, (alpha1.org), only about 100,000 people in the United States are living with Alpha-1. Worldwide, it affects about 1 in every 1,500 to 3,500 people. Those numbers sound rare, but for the individuals who have Alpha-, doesn’t feel rare at all, it’s personal.
Alpha-1 Antitrypsin (AAT) is a protein your liver makes to protect your lungs. You can think of it as the body’s “bubble wrap” for your airways, protecting them from inflammation and irritation. Most people never have to think about whether their lungs can withstand smoke, pollution, dust, or everyday environmental triggers, but in someone with Alpha-1 Antitrypsin Deficiency (AATD), that protective bubble wrap is either missing or flimsy, leaving the lungs vulnerable. This can lead to asthma-like symptoms, early emphysema (even in people who have never smoked/vaped), or COPD. People may not realize Alpha-1 is behind their breathing problem and won’t without testing. Alpha-1 is genetic, meaning you must inherit it from at least one of your parents, and can also be found in genetic testing as well.
AAT proteins are made in the liver, where instead of producing and releasing healthy AAT into the bloodstream, the faulty protein can get stuck inside liver cells. Over time, this buildup can cause scarring, cirrhosis, or even liver failure. Many people with certain types of Alpha-1 develop liver problems long before they even hear the word “Alpha-1.” According to the Alpha-1 Foundation, most people who have it are still undiagnosed or misdiagnosed, sometimes for decades, making a rise in awareness even more important.
With the rise of home DNA tests like 23&Me, more people are seeing unexpected results about Alpha-1 and wondering what the string of letters actually means. The letter combinations PiMM, PiZZ, PiMZ, PiMS, and so on, look confusing, but each one describes how high your risk is for disease. Since these come from your parents, those letters are your genetic “recipe,” and depending on the combination, that recipe may be missing important ingredients. Here are simplified definitions from AlphaNet.Org:
- MM means no Alpha-1 deficiency.
• MS and SS are variants that don’t typically lower AAT levels enough to cause disease but may.
• MZ means you carry one “Z” allele, which does raise the risk of lung and liver issues.
• ZZ and SZ genotypes are the ones most clearly affected by Alpha-1 and have a significant risk for lung and liver disease.
If the MM genotype is the complete recipe, then MZ or SZ genotypes are like having only part of the ingredients, and ZZ is missing a few key components entirely. Those missing pieces are what lead to the damage.
Like many rare diseases, there is currently no cure for Alpha-1, but there are a couple treatment options. Augmentation therapy is one option. It uses infusions of purified AAT protein from donated plasma to increase the amount of protective protein in the blood. These infusions are usually weekly and continue for life, and while they don’t fix the genetic problem, they can slow lung damage and help people breathe better. Some people may eventually require lung or liver transplants. Even then, the genetic deficiency remains, so the new organs still need ongoing protection. Other options include inhalers, and oxygen supplementation.
Lifestyle choices play a major role in managing Alpha-1. No one should ever smoke or vape, but this is especially damaging to those with Alpha-1, and they need to avoid secondhand smoke. Air purifiers can help reduce indoor pollutants, and staying up to date on vaccines protects against infections that can trigger lung damage. A balanced diet supports both lung and liver health, and regular exercise helps keep the lungs strong and supports liver health.
Alpha-1 is a reminder of how a hidden genetic condition can shape someone’s life, long before they know what’s causing their symptoms. Many people with unexplained shortness of breath, chronic cough, or early lung or liver disease may have lived with Alpha-1 for years before a test finally provides the missing piece of the puzzle. That’s the reality of rare diseases: they only appear rare until you’re the one living with them. They blend into common symptoms, impersonate as everyday diagnoses, and often go unnoticed by both patients and providers.
That’s why awareness months matter. They aren’t just public health reminders, they’re opportunities. They prompt us all to ask questions, connect dots, and consider possibilities they may never have heard of. If you or a family member has been diagnosed with asthma or COPD that doesn’t respond well to treatment, or if there is a history of early emphysema or liver disease, it may be worth asking your doctor about Alpha-1 testing, why not?
This November, take a moment to breathe a little deeper for yourself and for those who can’t. Learn something new about your own health, and don’t be afraid to talk about it. Sharing what you’ve discovered might help someone else finally get an answer, get treatment, and breathe easier. Alpha-1 affects less than 0.07% of the population, but for the people living with it, being seen and breathing means everything.