According to the American Lung Association, more than 12.5 million Americans live with the lung disease known as chronic obstructive pulmonary disease (COPD). While COPD occurs most significantly in smokers, some people may develop COPD, in part, due to a genetic predisposition.
“Hereditary COPD means that…a trait was passed on from your parents that contributes to or causes COPD,” says Jeremy Weinberger, MD, a pulmonologist and critical care physician at Tufts Medical Center in Boston.
Several genetic variants have been identified that may increase a person’s risk of developing COPD, says Dr. Weinberger, but “alpha-1 antitrypsin deficiency is the most well-known and studied genetic contribution.”
Alpha-1 antitrypsin (alpha-1), a protein made in the liver, which is responsible for protecting your lungs. When your body doesn’t make enough of this protein, breathing in smoke, pollutants, or dust can damage your lungs more easily and increase your risk of COPD. In fact, “alpha-1 antitrypsin deficiency is likely responsible for a significant amount of COPD in someone if they have it,” Weinberger says.
It is possible to have alpha-1 deficiency without knowing it. If you have COPD and a family history of this deficiency, a diagnosis may help protect your health.
What are the signs of chronic obstructive pulmonary disease?
Various factors may indicate that your COPD is hereditary:
- Diagnosis age: COPD is most often diagnosed in people 40 years of age or older, but with hereditary COPD, symptoms such as shortness of breath and wheezing may start as early as our 20s.
- Asthma diagnosis: Sometimes people with genetic COPD are diagnosed with asthma for the first time, because the symptoms overlap.
- Diagnosis of chronic obstructive pulmonary disease: COPD is an umbrella term for a number of lung diseases, one of which is emphysema. This particular disease is more likely to have a genetic link than other forms of COPD.
- Lung injury site: “COPD is usually most noticeable in the upper part of the lungs,” Weinberger says. “So, if we see someone with lower lung disease to a greater degree, we might suspect there is a genetic component.”
- No personal history of smoking: Hereditary COPD may develop despite minimal or no smoking history, Weinberger notes.
- Family history of chronic obstructive pulmonary disease: “If there is a family history of COPD, that may indicate a genetic component,” he says.
- Medical history of other conditions: Certain health issues, such as liver disease, a skin condition called panniculitis, and rare inflammatory diseases, can associate with COPD and be a sign that it is hereditary, Weinberger says.
When Should You Look for a Genetic Diagnosis of COPD?
If you suspect that your COPD is hereditary, it is important to get it diagnosed sooner rather than later. “Understanding whether or not there is a genetic component is important in how you treat and prevent further development of COPD,” Weinberger says. Although there is no cure for alpha-1 deficiency, appropriate treatment can help slow the lung damage associated with it.
Identifying hereditary COPD can help determine the best next steps for you. For example, while it is important for anyone with COPD to quit smoking, it is especially important for people with the genetic form to quit smoking and not pick up the habit again. “People who have genetic risk factors for COPD are at particular risk of developing severe COPD if they continue to smoke,” Weinberger says.
If you have hereditary COPD, you will also need to share your diagnosis with your family, who may be at risk. “It helps inform genetic screening…and the things they can do to prevent the development of COPD or slow its progression,” says Weinberger.
Diagnosing hereditary chronic obstructive pulmonary disease: what to expect and next steps
Most people with alpha-1 deficiency don’t know it. If you suspect that COPD may be hereditary, it is important to get tested to help determine the best way to protect the health of your lungs.
Diagnosis usually begins with a simple blood test to check alpha-1 levels. If your results show low levels of the protein, you will likely be formally diagnosed with alpha-1 deficiency.
Not all alpha-1 deficiencies are the same, though, Weinberger notes. “There are several genetic subtypes of alpha-1, which are differences that are inherited from the parents and can lead to different severity of alpha-1 antitrypsin deficiency level.”
As such, your doctor may also perform genetic testing. “With genetic testing so widely available, we will now check both the alpha-1 antitrypsin level and genetics up front,” Weinberger says. “The results of these two tests can help determine how much of the genetic component we think may contribute to COPD and its future risk.”
From there, in addition to your usual COPD treatment, your doctor may start you on intensive therapy, if eligible. This treatment helps increase alpha-1 levels in the lungs to help slow lung damage.
