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People with AAT produce antitrypsin that is a different "shape" and it gets stuck in the liver and never reaches the lungs. This can lead to liver disease. The lack of antitrypsin in the lungs also makes you a lot more prone to developing lung related diseases like emphysema.

There's a bunch of different forms and severity of it, depending on what genes you've inherited from your parents. I unfortunately have the worst form (ZZ) which gives me a 80% chance of developing a serious lung or liver disease by the time I'm 50.

Fortunately there's a lot of progress being made, blood transfusions can increase the level of antitrypsin in the blood, and there's trials for an inhalant form.

I also found out when I was a kid thanks to a proactive doctor when I caught an infection and my liver got inflamed. Which makes me extremely fortunate to have the ability to mitigate it while I'm young and when it doesn't affect me.

AAT is commonly diagnosed in middle-aged folk after they've developed COPD or emphysema. There's about 100,000 people in the US with AAT, with only 10,000 of those actually diagnosed. It's more common for those with Northern European and Iberian ancestry.

If you suspect that you or a loved one has AAT, then you can get an easy blood test to measure the levels of antitrypsin in your blood. If you are diagnosed then all it requires is an annual antitrypsin blood, liver function, and pulmonary function test.