The Importance of Testing Family Members of Alpha-1 Patients

What is Alpha-1?

Most cases of emphysema are caused by smoking or other environmental factors. However, there is growing evidence that genetics can also increase the risk of developing the disease. In about one out of every 50 cases of emphysema, there is a specific hereditary basis for the disease called Alpha-1 Antitrypsin Deficiency or, more simply, Alpha-1. This disease is also sometimes referred to as inherited emphysema.

Why is it important to be tested?

It is important to test family members of Alpha-1 patients to determine their risk of getting lung or liver disease, to provide early treatment if they also have the disease and to aid in genetic counseling. 

Early diagnosis of Alpha-1 may prevent disease if risk factors can be avoided, and early treatment may decrease the rapid progression of disease seen in Alpha-1 patients. Counseling should be provided before someone is tested.

How can genetic discrimination be avoided?

In many states, there is no protection against genetic discrimination in such things as employment or obtaining health and life insurance. Even if you are healthy yet diagnosed with Alpha-1, the potential to develop disease can result in such discrimination.  Family members may be reluctant to be tested, so providing them with information may help them in making the decision to be tested.

While we await national legislation to prevent genetic discrimination, there is a free confidential testing program available to family members of those with Alpha-1. It is called the Alpha-1 Coded Testing Trial (ACT) and test kits can be ordered by going to www.alphaoneregistry.org or by calling 877-886-2383. 

For more information about Alpha-1, contact National Jewish Lung Line at 800-222-LUNG or the Alpha-1 Foundation at 877-228-7321 (www.alphaone.org).