It was a simple fingerprick/fingerstick blood test but the results were telling. In fact, they were so revealing they garnered Dr. Benjamin Laracuente and the team at Tri-State Pulmonary Medical Practice in Monaca, PA some press.

READ: Center Pulmonologist Offers Free Genetic Testing For Condition That Can Cause Lung Disease at

Through a simple genetic test, Dr. Laracuente found that a number of Western PA/Beaver County residents had a genetic disorder linked to lung and liver disease. This hereditary condition is known as alpha-1 antitrypsin.

What Is Alpha-1 Antitrypsin?

Also known as AATD, this hereditary condition makes people highly sensitive to environmental factors. This is particularly troubling in the Beaver region since dust, industry pollutants, and cigarette smoke are still abundant in an area where chronic obstructive pulmonary disease (COPD) is a prevalent diagnosis.

With this defective gene, the body can’t protect itself from inflammation brought on from inhaled pollutants or cigarette smoke. This puts the body in a continuous inflammatory state. Lung disease develops as the cells supporting lung elasticity are gradually destroyed by this perpetual inflammation. The risk for liver disease and cirrhosis also increases.

While the Alpha-1 Foundation estimates that 1 in 2500 people have AATD, this is widely believed to be a severely underdiagnosed condition since testing for the deficiency hasn’t been common.

Meanwhile, pulmonologist often see the same patients repeatedly complaining of shortness of breath, wheezing, repeated or long-lasting lung or sinus infections and/or symptomatic emphysema, chronic bronchitis, persistent asthma, or COPD that isn’t responding to treatment. And more otherwise healthy people in their late 30s and early 40s are suffering from symptoms of inexplicable early onset COPD and emphysema.

Dr. Laracuente is staying on top of ongoing research and studies on hereditary lung conditions and the merits of genetic testing for alpha-1. In the meantime, the Tri-State Pulmonary Medical Practice strongly encourages anyone with chronic bronchitis or asthma, symptomatic emphysema, and COPD that isn’t responding to treatment to get a genetic test for alpha-1.

Hereditary Lung Disease Isn’t New

The correlation between genetics and lung disease has long been known. Not only are we individuals, but we’re unique beings. Unless we have an identical twin, no two people possess the exact same genetic makeup. We’re all comprised of genetic variants that influence everything from our height, hair, body type, and blood type. Distinguishing markers of one person to the next.

Within each and every one of us are genetic variants that science has long suspected to be actual predictors of the development of certain diseases. In particular, studies have suggested that many common diseases of the lungs have a genetic component.

For instance, it’s been known for sometime that Cystic Fibrosis (CF), which is a potentially fatal disease of the lungs and digestive tract, is hereditary and linked to genetic mutations to a gene called CTFR.

CF causes the excess production of thick, sticky mucus, which blocks airways and leads to scarring and lung damage. We treat CF with a combination of chest physical therapy, exercise, medicine (antibiotics, anti-inflammatory medications, and bronchodilators), breathing techniques, and nutritional counseling.

It’s also not coincidental that parents with asthma often have asthmatic children. That said there are also children who’ve inherited the gene that causes asthma that may never get asthma. For this reason, testing for genetic factors has never been viewed as an exact predictor if someone will get asthma or develop COPD.

But pulmonologists like Dr. Laracuente believe patients with the higher-risk alpha-1 genetic marker can be better protected from the devastating effects of emphysema and COPD through early detection.

Lab results are returned within a week or two, eliminating years of repeat physician visits, non-diagnosis, and more importantly, lost time. This allows Dr. Laracuente and the team at Tri State Pulmonary to counsel patients on preventative measures such as smoking cessation, vaccinations, medications, and nutritional programs designed to lower their risks for hereditary lung disease.

Additionally, results of the genetic alpha-1 blood test are confidential and not shared with third parties, including insurance providers.

Contact us at 724-728-5995 if you’d like to discuss genetic disorders of the lung and genetic testing for alpha-1.