It’s not always easy to get a diagnosis of alpha-1 antitrypsin (AAT) deficiency, a rare condition that sometimes causes serious damage to the lungs and liver. In fact, most people with the disorder are never diagnosed, experts say.
Also known as alpha-1, this genetic condition means you don’t have enough alpha-1 antitrypsin protein in your bloodstream. When it affects your lungs, it can lead to chronic obstructive pulmonary disease (COPD).
Normally, AAT protects your lungs from damage while your immune system fights infection and inflammation. But without enough AAT, the substances released during the immune process can damage your lungs and make them more susceptible to damage from smoking or pollution.
Who gets AAT deficiency?
Experts estimate that AAT deficiency affects about 1 in 3,500 people in the United States, but only about 10% of them know they have it.
“It’s very underdiagnosed,” he says. Mike Wells, MD, associate professor of pulmonary, allergy, and critical care medicine at the University of Alabama at Birmingham College of Medicine.
It is believed that about 3% of people with COPD go undetected by alpha-1. You may hear a condition called “hereditary chronic obstructive pulmonary disease” when it’s caused by a deficiency in AAT.
Why is chronic obstructive pulmonary disease difficult to diagnose?
Many people with AAT deficiency are healthy and have no symptoms at all. If you do develop symptoms, they are likely to start when you are between the ages of 20 and 50.
Some of the lung-related symptoms that you could experience are:
- shortness of breath
- Chronic cough and bronchitis
- Recurring colds or pneumonia
- Difficulty exercising
These symptoms can be very similar to those of asthma or chronic obstructive pulmonary disease associated with smoking. Many people are diagnosed with these more common conditions instead. Asthma medications are often helpful for people with AAT deficiency, which can add to the confusion.
Even if you are diagnosed with an AAT deficiency, it can take a long time – an average of 5-8 years after you start to have symptoms. You may have to see several doctors as well. Research has found that women and older adults tend to take longer to be diagnosed.
Who should be tested?
While only a doctor can diagnose AAT deficiency, the FDA recently approved a home kit you can use to see if your genes put you at risk for it. The kit, called AlphaID At Home, is available without a prescription. To use it, you collect a sample of your saliva and send it to a lab to be processed. You should then share the results with your doctor.
To diagnose the condition, your doctor will perform a test to detect the condition. Doctors cannot diagnose AAT deficiency solely by its symptoms or a medical exam.
Khalil Diab, MD, a pulmonologist and assistant professor at the George Washington College of Medicine and Health Sciences, says doctors often don’t test their patients for several reasons.
It is a relatively rare disease that doctors may not know much about. Or they may not think the test is helpful. Diab says treatments for AAT deficiency are often expensive and sometimes viewed as ineffective.
But some cases—particularly when they appear in young adults—should prompt testing for AAT deficiency.
“We know alpha-1 can cause COPD and emphysema, but it can also lead to liver injury and cirrhosis, so having one of these conditions is usually a clue for a provider to test for,” Wells says.
In fact, the American Thoracic Society recommends that doctors test all adults with chronic obstructive pulmonary disease (COPD), emphysema, and severe: Asthma, or liver disease unexplained for AAT deficiency. The group recommends that siblings of people with the deficiency be tested as well.
How is AAT deficiency diagnosed?
Your regular doctor can screen you for this disorder. So can specialists such as pulmonologists, allergists, immunologists, and hepatologists, Wells says.
Your doctor may first check the levels of AAT protein in your blood. But to confirm that you have an AAT deficiency, they also need to take a genetic test. This is usually done with a blood test, but your doctor may also swab the inside of your nose or cheek.
Genetic testing will tell you which AAT mutation you have. If you have AAT deficiency, you have inherited an abnormal gene from both of your parents.
Different alpha-1 genes carry different risks. So, knowing the combination of these genes that you have helps your doctor understand your condition and your risk of lung disease. A genetic counselor can help explain your results.
Your doctor may also perform imaging tests such as X-rays or CT scans to see the extent of lung damage you may have.
Why is the diagnosis important?
It is important to get a diagnosis of AAT deficiency because getting treatment early can slow the progression of COPD.
Also, if you are a smoker, knowing that you have ATT deficiency gives you a very important reason to quit smoking.
“a Diab says a lot of people with this deficiency may develop a kind of slight collapse of the lungs when they get older. But if someone is a smoker, they get it at a much younger age than normal COPD.
Because AAT deficiency is hereditary, your siblings, parents, and children should be tested after you’re diagnosed, Wells says.
Finding out they have this disorder can motivate your family members to quit or avoid smoking so they don’t develop COPD. They’ll also know to stay away from secondhand smoke and jobs with polluted air.
“It is important to diagnose it early because it also has implications for patients’ family members,” Diab says. “I think we should all follow the guidelines and try to get an early diagnosis and then discuss treatment options with the patient.”
There is no cure for AAT deficiency, but you can be cured of COPD. There is, too A treatment for AAT called potentiation therapy. You get IV injections of ATT protein from blood donors every week. This raises AAT levels and slows the progression of the disease.
When you’re diagnosed with an AAT deficiency, consider seeing a specialist such as a pulmonologist if you aren’t already, Wells says.
You should also have annual liver exams. Since AAT deficiency also affects the liver, you’re more likely to develop cirrhosis, or scarring, and liver cancer, Diab says.