Alpha-1 Antitrypsin Deficiency (AATD)

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What is Alpha-1 Antitrypsin Deficiency (AATD)?

Alpha-1 Antitrypsin Deficiency, more commonly referred to as Alpha-1, is an inherited disorder that affects the lungs and liver. In individuals with Alpha-1, there is a deficiency of the enzyme alpha-1 antitrypsin in their bloodstream.

The protein produced by this enzyme normally protects the body from damaging enzymes, such as neutrophil elastase, which can destroy tissue in the lungs and other organs. This can cause recurring respiratory infections or inflammation which may lead to emphysema and cirrhosis over time. Some individuals with Alpha-1 also experience liver problems due to inflammation caused by an excess of alfatoxins released after exposure to a certain type of mold.

Up to 1 in 3,500 individuals worldwide have Alpha-1, making it a relatively rare disorder. However, if both parents are carriers of the gene which causes Alpha-1 (one copy is inherited from each parent), their child has a 25 percent chance of developing the disease and a 50 percent chance of being a carrier for it. This explains why certain ethnic groups such as Northern Europeans and Ashkenazi Jews have higher rates of this condition.

Alpha-1 Antitrypsin Deficiency can be diagnosed through several methods including blood tests and genetic testing. Medications may help address liver inflammation or respiratory infections, depending on the type experienced by an individual with Alpha-1. These medications can also help slow the progression of emphysema and cirrhosis. Individuals with Alpha-1 are encouraged to avoid smoking as this can aggravate their lung issues. Some individuals may need a lung transplant or liver transplant in order to improve their quality of life.