New guidelines published to help doctors identify and treat potentially deadly genetic disorder
GAINESVILLE, Fla. — The first-ever comprehensive guidelines to help physicians accurately diagnose and treat an inherited protein deficiency associated with deadly lung disease were released today.
The new guidelines, published in today’s issue of the American Journal of Respiratory and Critical Care Medicine, will help doctors determine whether patients with chronic obstructive pulmonary disease have a genetic deficiency of the protein alpha-1 antitrypsin.
“The new standards strongly recommend everyone with chronic obstructive pulmonary disease be tested for alpha-1 antitrypsin deficiency,” said Dr. Mark Brantly, a professor of medicine and of molecular genetics and microbiology at the University of Florida’s College of Medicine. “Even if identifying the deficiency can’t help an individual in the end stages of the disease, it’s important to track down families carrying the gene so they can make lifestyle changes that reduce their chances of getting sick. If we can identify at-risk individuals early, we can counsel them to not smoke or be exposed to cigarette smoke, and to not be in a job where you’re exposed to a lot of infections or dust.”
Brantly, director of UF’s Alpha-1 Antitrypsin Deficiency Research Program, said chronic obstructive pulmonary disease affects 780,000 Floridians and is the fourth leading cause of death in the United States.
The evidence-based guidelines are the result of four years of work by an international task force, which included Brantly on its executive committee. Drs. James K. Stoller, a professor of pulmonary and critical care medicine at the Cleveland Clinic Lerner College of Medicine, and Gordon L. Snider, a professor of medicine at the Boston Veterans Affairs Medical Center’s department of medicine, co-chaired the executive committee.
Brantly directs a first-of-its-kind, state-sponsored alpha-1 antitrypsin deficiency screening program that tested 3,000 people last year. One in 10 people of those with chronic obstructive pulmonary disease were either deficient in alpha-1 antitrypsin or a carrier of the gene that causes the condition. In July, the 3-year-old program received $150,000 from the state of Florida and the Alpha-1 Foundation.
“The screening program has a unique methodology that’s simple for physicians to use in their office,” he said. “We use a finger-stick to obtain a blood sample on a card that’s then mailed to our laboratory. Having a laboratory where that’s all we do is important because it gives physicians confidence in our accuracy.”
Alpha-1 antitrypsin normally protects the lungs from neutrophil elastase, an enzyme the body uses to remove dead cells and bacteria. A deficiency in the protein ? something affecting an estimated 100,000 Americans ? can cause excessive levels of the enzyme to build up, damaging lung tissue. The deficiency also causes liver disease and is the second most common cause of pediatric liver transplants in the United States.
“In contrast to cystic fibrosis, alpha-1 antitrypsin deficiency is just not on the tip of anyone’s tongue,” Brantly said. “It lurks out there as a major genetic disease that causes a lot of disability and death in the state of Florida, and it’s just not on the radar screen for most physicians.”
Treatments outlined in the new guidelines include raising levels of alpha-1 antitrypsin through intravenous delivery systems, using antibiotics to treat lung infections, surgically reducing lung volume, and transplanting the lungs or liver.
Dr. David Solomon, a University of South Florida professor of medicine and director of the USF division of pulmonary and critical care medicine, said he agrees that everyone with chronic obstructive pulmonary disease should be tested for the deficiency.
“It’s very, very important for physicians to be made more aware of this condition, especially in regard to the availability of testing,” Solomon said. “It would be a major step forward if the standards emphasize that there is an easy way to test for it and that it should be available at primary care and pulmonologists’ offices.”
UF also helps produce and distribute alpha-1 antitrypsin deficiency educational materials, maintains a referral network to steer patients with the condition to appropriate health-care providers and actively researches potential new therapies.
“Making sure patients are properly diagnosed is really the key aspect of addressing alpha-1 antitrypsin deficiency, and I think we’ve created the infrastructure to help physicians in Florida come to that level,” Brantly said.