The official blog of the Lung Institute.
The Genetics of COPD
Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States. Most people develop COPD from a lifetime of smoking cigarettes, but that’s not the case for all sufferers. Some develop COPD through breathing harmful air in the workplace. People who work in coal mines, with sand blasting equipment and in metalworking get what’s called occupational COPD by breathing in the small particles that float in the air. However, these factors do not account for 100 percent of all COPD cases. A tiny percentage of people with COPD are getting it without smoking a single cigarette or working in a harmful environment. This phenomenon has people asking the question, “Is COPD Hereditary?”
Alpha-1 Antitrypsin Deficiency
COPD is inescapable for those that are born with the alpha-1 antitrypsin deficiency. When a mutation with the SERPINA1 gene occurs, the result is alph-1 antitrypsin deficiency. This causes the alpha-1 antitrypsin protein to not combat the enzyme called neutrophil elastase as it does in the body of a person without the genetic disorder. The result is that white blood cells normally enlisted to fight infections are left unregulated and attack the alveoli, causing sufferers to lose lung capacity and become increasingly short of breath.
The deficiency is typically hereditary. Given the difficulty in detecting the disorder, most people who have the deficiency don’t realize they have developed COPD due to a genetic disorder. People with the alpha-1 antitrypsin typically show symptoms of COPD as early at 20 years old. However, some show no symptoms until their late forties or early fifties.
Smokers and others who regularly breathe in polluted air are at greater risk of developing COPD if they have an alpha-1 antitrypsin deficiency. The combination of airborne toxins and weakened alveoli caused by alpha-1 antitrypsin deficiency accelerate the breakdown of the lungs and speed pulmonary deterioration due to the disease.
Being a genetic disorder, alpha-1 antitrypsin deficiency has very few treatment options and no known cure. However, the corresponding lung disease can be treated.
If you or a loved one are experiencing the symptoms described, contact your physician right away. Various treatment options are available after a diagnosis of COPD. Cellular therapy could slow the progression of lung disease. To learn more about treatment options, contact us or call (800) 729-3065.