Alpha-1 Antitrypsin (AAT) deficiency is an inherited genetic disorder that affects the body's production of a crucial protective protein called AAT. This protein is normally produced in the liver and travels to the lungs to protect them from damage. When someone has AAT deficiency, these proteins get stuck in the liver Show Full Answer
Alpha-1 Antitrypsin (AAT) deficiency is an inherited genetic disorder that affects the body's production of a crucial protective protein called AAT. This protein is normally produced in the liver and travels to the lungs to protect them from damage. When someone has AAT deficiency, these proteins get stuck in the liver instead of reaching the lungs, leaving them vulnerable to damage.
Common symptoms include:
• Shortness of breath
• Wheezing
• Recurring lung infections
• Tiredness
• Faster heartbeat when standing
• Weight loss It's important to know that this condition often goes undiagnosed - about 90% of people who have it don't know they have it. The good news is that while AAT deficiency is incurable, it can be managed and treated, especially when caught early. A simple blood test can confirm if someone has this genetic condition.
If you have this condition, it's particularly important to avoid exposure to toxins and pollutants, including cigarette smoke and diesel fumes, as they can have a more severe impact on people with AAT deficiency.
September 22, 2025
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September 23, 2025