Alpha-1-antitrypsin (AAT) deficiency is a rare hereditary disorder that can lead to severe chronic obstructive pulmonary disease (COPD). While there is no cure, treatments and lifestyle changes can help manage your symptoms and protect your lungs from further damage.

COPD is a group of lung diseases that includes emphysema and chronic bronchitis. The most common symptoms people have when lung disease develops due to AAT deficiency are:

  • Wheezing
  • shortness of breath
  • A chronic cough with mucus
  • Repeated cold
  • Pneumonia

Ronald Crystal, MD, chairman of genetic medicine at Weill Cornell Medicine, said people are usually diagnosed with AAT deficiency after visiting their doctor because of shortness of breath.

“They go up a flight of stairs and are short of breath. They walk up the subway stairs and are out of breath. They’re trying to run, like chasing a bus or something, and they’re short of breath,” says Crystal, another pulmonologist who has treated more than 500 people with the disease.

“Most people attribute it to things like, ‘Well, I’m getting old, I’m out of shape, I’m overweight,’ and they put it off until it persists and it gets worse.

But the longer you wait to get treated, the more damage can be done to your lungs.

What is Alpha-1 Antitrypsin?

Alpha-1 antitrypsin is a protein made by your liver that moves through your body into your bloodstream. One of its main functions is to protect your body from an enzyme called neutrophil elastase. Your immune system produces this enzyme to help fight inflammation or infection. But if it’s not controlled by AAT, it can damage the delicate tissues in your lungs.

Without enough AAT, the neutrophil elastase damages more and more of your lung cells. As the damage continues over the years, lung disease can develop.

The situation is worse for people who smoke. Smoking causes emphysema and other symptoms to develop much more quickly.

“If you’re not a cigarette smoker and you have alpha-1 antitrypsin deficiency, you don’t get the emphysema until about age 55,” says Crystal. “But if you are a cigarette smoker, or if you have been a cigarette smoker, you can get the disease by age 35 to 40.”

Can AAT Deficiency Affect Other Parts of My Body?

Although rare, AAT deficiency can also cause liver disease, including cirrhosis and liver cancer. People usually develop lung disease or liver disease, but not both, Crystal says.

When AAT affects your liver, it’s because the alpha-1 protein produced there has an abnormal shape. That means it can’t get out and builds up in your liver. Over time, this causes damage to the organ, Crystal says.

How is ATT deficiency diagnosed?

If you are in your 30s, 40s, and even early 50s and develop signs of COPD, such as shortness of breath, get tested for AAT deficiency.

Your doctor will start with a full exam and listen to your breathing.

If you have emphysema or other COPD not caused by AAT deficiency, it tends to affect the upper and middle lobes of your lungs. If your lung disease is due to AAT, it’s more likely to affect the lower parts of your lungs, says Crystal.

While your doctor may notice signs of AAT deficiency, you’ll need a blood test to confirm the diagnosis.

Your doctor may also recommend imaging tests, such as X-rays and CT scans, to examine your lungs and liver for damage.

What Are the Treatments for AAT Deficiency?

Several treatments are available to address the symptoms of COPD. But augmentation therapy (sometimes called replacement therapy) is the only specific therapy for AAT deficiency. It uses alpha-1 antitrypsin protein from healthy human donors to boost your protein levels. You get it in regular IV infusions.

The goal is to increase the alpha-1 antitrypsin protein in your body so it can protect your lungs from the neutrophil elastase enzyme.

While this treatment does not cure AAT deficiency or repair damage already done, it can help protect your lungs from further damage.

“You can’t return lung function. Normal air bags cannot be returned. What you can do is prevent them from getting worse,” says Crystal, who helped develop the therapy as a former chief of the pulmonary division at the National Heart, Lung, and Blood Institute.

While Crystal offers the treatment to its patients with both early and severe illnesses, some doctors have differing views on who should receive the therapy and when. Some only give it to people with moderate lung disease, not those with early or severe disease.

“My argument for treating someone with a serious illness is that as long as they sit in your office and talk to you, they clearly have enough lungs to protect. And why not treat them then?” he said. “So I treat everyone. As long as they have signs of emphysema, either from lung function or CT scan, I treat them.

What else can I do for AAT deficiency?

If you have AAT deficiency, your doctor may prescribe an inhaler, oxygen therapy, or antibiotics to help with COPD flare-ups.

it is especially important not to smoke. Talk to your doctor about how to exercise safely, especially if you have symptoms of lung disease.

If you have signs of liver disease, limit alcohol.

Crystal says it’s essential for people with AAT deficiency to stay up-to-date on vaccines, including the annual flu shot.

“Make sure you get your pneumococcal vaccination and of course make sure you get COVID vaccinations because these people are much more susceptible if they have pneumonia or viral pneumonia,” he says. “Vaccinations, vaccinations, vaccinations – they are so important.”

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