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HERWriter Guide

Hello Anon

Thank you for writing and I'm sorry your mother is going through so much.

For the benefit of our readers, Alpha-1 Antitrypsin Deficiency is a genetic condition that affects the lungs and the liver.

In "normal" people, the liver produces the Alpha-1 protein (AAT). This protein travels to the lung via the bloodstream and keeps the lungs from becoming inflamed because of tobacco smoke and other irritants. When the gene responsible for production and release of this protein into the bloodstream is not working properly, the AAT builds up in the liver and decreases in the lungs eventually leading to irreversible damage to the tissues.

The condition only develops if both parents pass on defective genes to their children. If only one parent is a carrier, then the children will not develop the condition, but they will become carriers. Research indicates that about 20 million people have one normal and one defective AAT gene. It is estimated that one in every 2,500 Americans have Alpha-1 and about one in every 5,000 to 7,000 people across North America. Alpha-1 is not bound by culture or ethnic group - although the condition is less prevalent in black and asian populations.

There is no cure for Alpha-1. Common treatments include intravenous augmentation which is a weekly injection of purified AAT and use of common bronchodilators to assist with breathing and corticosteroids to help reduce inflammation. In more severe cases, lung and liver transplants are also options.

It is also important that those with Alpha-1 reduce their exposure to harmful irritants (cigarette smoke, dust, gases and fumes) and not smoke or quit smoking.

Anon, we cannot say what her life expectancy will be. End stage liver disease includes lack of appetite, fatigue, depression and cramping.

Anon, it's important you talk with your mother's health care team to know how to care for her and what to expect.
Best,
Susan

October 15, 2018 - 2:48pm

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