AATD is a genetic (inherited) condition – it is passed from parents to their children through their genes. This deficiency will result in serious lung disease in adults and/or, at times, liver disease mainly in adolescents or young adults.

For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with A1AD can receive one or two abnormal alpha-1 antitrypsin genes. Persons inheriting two abnormal genes often develop more serious disease.

The antitrypsin deficiency involves the lack of protein which provides a protective coating to the lung tissue. The absence of this coating allows the body’s own immune system to attack and destroy lung tissue over time resulting in a severe emphysematous condition.

Required treatment involves serum replacement of this protein which then provides this protective coating. However, lost lung function cannot be restored and most misdiagnosed patients ultimately must undergo lung transplants to extend life expectancy.

Based on a 47 year old patient

*Normal Range, % Predicted: 80-120
22% shows a significant inability to expel air from the lungs and is a classic sign of possible A1AD

*Normal Range, % Predicted: 75-120
37% is highly abnormal which is a classic sign of early emphysema and possible A1AD

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