Alpha-1 Anti-Trypsin Deficiency Disorder is a genetic condition passed on from parents to their children. Possible outcomes of this condition include serious lung and/or liver disease at various life stages, which may result in the need for oxygen therapy. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50.
A-1 antitrypsin is a protein that is predominantly produced by the liver and is supposed to protect the lungs from an enzyme called neutrophil elastase. Normally, this enzyme digests damaged or ageing cells and bacteria in the lungs and helps to promote healing. However, this enzyme can also attack healthy lung tissue. So, if the body is deficient in its A-1, then the enzyme can damage lung tissue.
The interesting thing about A-1 is that the initial and primary diagnosis is usually Emphysema, a disease that normally affects older individuals. Alphas are commonly misdiagnosed with asthma or smoking-related COPD. As the lungs deteriorate, the patient may be diagnosed with asthma, chronic bronchitis, or bronchiectasis. It’s not uncommon for Alphas to acquire lung infections and to experience further lung damage as a result.
A-1 is estimated to affect 1 out of every 2,500 people in the USA and it takes an average of 3 doctors 7 years to diagnose the disease. Also, in the USA, there are more than 12 million people diagnosed with COPD and approximate 3% of them are predicted to have A-1. It is also estimated that 20 million people in the US are undetected carriers of the abnormal gene that causes A-1.
The number one health tip for someone with A-1 is, if you smoke, STOP! It is also important to avoid pollution, dust, chemicals and ozone. Most doctors recommend flu and pneumonia vaccines annually. They also recommend limiting alcohol intake. And, of course, it’s important to eat a healthy diet and exercise.
Treatments for A-1 include “augmentation therapy,” which consists of weekly IV infusions of alpha-1 antitrypsin, drug therapy and organ transplantation.