All About Alpha-1 Genetic Emphysema

Emphysema is a lung condition that affects millions of people worldwide. It’s a type of chronic obstructive pulmonary disease, or COPD, that makes it harder to breathe. People with emphysema often struggle to catch their breath and may cough, wheeze or have chest pain.

Smoking cigarettes is the main reason someone develops emphysema. However, emphysema can happen in people who have never smoked. This may be due to different reasons, one of which is a change in a gene called alpha-1.

“The alpha-1 gene gives the body instructions on how to make a protein called alpha-1 antitrypsin, or AAT,” says Leonard Riley, MD, pulmonologist at The University of Kansas Health System. “This protein is an anti-inflammatory that acts like a repair substance to help cool off the lungs.”

In people with genetic emphysema, the alpha-1 gene has a change, or mutation. This mutation results in less AAT circulating throughout the body. When this happens, it’s called alpha-1 antitrypsin deficiency, or AATD.

“AATD is described as a very rare disease,” says Dr. Riley. “It occurs in 1 in 2,000 to 5,000 people, which is similar to cystic fibrosis.”

Without enough AAT to help repair the lungs, inflammation worsens. This leads to lung damage and chronic conditions like emphysema.

“When you don’t have enough AAT floating around in your body, the inflammation in your lungs runs unopposed,” says Dr. Riley. “This causes more inflammation, breaking down lung tissue.”

In addition to lung problems, too little AAT can be bad for the liver – the organ that makes AAT. The alpha-1 mutation causes the AAT protein to misfold, kind of like a corkscrew. When this happens, the liver has a hard time releasing AAT.

“It builds up in the liver like a traffic jam,” says Dr. Riley. “Eventually, this can cause toxic accumulation, which leads to liver damage and cirrhosis.”

Anyone with a family history of emphysema, or nonsmokers diagnosed with emphysema, may want to consider genetic testing to determine if they carry the alpha-1 gene mutation.

Genetic testing for AATD may be offered through a healthcare professional. At-home kits that require use of a saliva sample are also available. Although genetic testing has become more available and affordable, Dr. Riley notes that many people with the alpha-1 genetic mutation still go undiagnosed.

“AATD is rarely tested, and it’s actually underrecognized,” Dr. Riley says. “Only about 5 to 10% of people with COPD ever get tested for it.” Get a free genetic COPD test.

There is no cure for alpha-1 antitrypsin deficiency. However, Dr. Riley mentions that alpha-1 protein replacement therapy can help. This treatment uses a purified alpha-1 antitrypsin protein infusion to replace missing AAT in the body. The infusion is given through a vein in a healthcare setting.

“It’s like putting oil back in the tank,” Dr. Riley says. “Alpha-1 protein replacement boosts levels of AAT to a more protective level to help fight off inflammation. This makes people feel better and helps preserve some lung function.”

Most people with alpha-1 antitrypsin deficiency who qualify for replacement therapy will need regular infusions for life. They may also need other treatments to help with emphysema symptoms. These treatments may include medicine, oxygen therapy and lifestyle changes, like quitting smoking. In some cases, artificial valves or plugs can be used to open up or block off diseased parts of the lungs.

“If you place a valve or small plug in those diseased lobes, the lobe collapses, and more blood and oxygen go to healthier parts of the lungs,” Dr. Riley says. “It changes the overall lung structure to go back to a normal size, making it easier to breathe.”

Dr. Riley notes that pulmonary rehabilitation can be an important element of treatment for people living with chronic lung diseases like emphysema and COPD. The program includes a combination of exercise therapy, education, and breathing exercises to manage symptoms and make breathing easier.

“There’s more to medicine than just an inhaler,” Dr. Riley says. “With pulmonary rehab, you get to meet other people who are struggling with diseases similar to you. And you get a lot of face time with [various] therapists who are able to coach, listen and talk to you.”

If you have AATD, it’s important to work with your healthcare provider to develop a treatment plan that’s right for you. The University of Kansas Health System offers comprehensive pulmonary medicine services for people living with chronic lung disease.

Medically reviewed by E. Leonard Riley, MD, a pulmonologist with The University of Kansas Health System. He is certified by the American Board of Internal Medicine.