This disorder is a deficiency that changes the natural processes of the body to heal itself in lung and liver functions, therefore leading to inflammation. People who have this genetic disorder are at risk of developing a chronic lung or liver disorder.
The new research was presented at CHEST 2006, the 72nd Annual International Scientific Assembly of The American College of Chest Physicians, being held in Salt Lake City, UT, from October 21 to October 26. Although the disorder is rare, approximately 150,000 individuals in the U.S. unknowingly have it, which if gone unchecked, can cause permanent and irreversible damage. It is hoped that further and larger testing will confirm the preliminary results of this study.
The rare genetic disorder is an alpha-1 antitrypsin (A1AT) deficiency, which can be identified with a new rapid-results test performed by a simple finger prick for blood. This test can help identify deficiencies in patients before major lung damage has occurred.
According to Newswise.com, the leading author of the study, Jim Carney, PhD, from British Biocell International (BBI) said, "Early and proper diagnosis of A1AT deficiency is vital to managing and treating this chronic lung and liver disorder. However, the most important issue associated with timely screening for A1AT is increased awareness among primary care physicians and pulmonologists."
Carney added, "An inexpensive, sensitive, and specific screening tool applied at the point of care, combined with effective A1AT deficiency awareness programs, will move us closer to the goal of quickly recognizing and confirming symptoms of A1AT deficiency."
According to the co-author of the study, David J. Prezant, MD, FCCP, from Monefiore Medical Center said, "A1AT deficiency is under recognized and under diagnosed, but we can overcome this challenge by a simple blood test that should be performed in all persons with family members having A1AT deficiency and in all persons who have no risk factors for early onset of [chronic obstructive pulmonary disease] COPD but are showing symptoms of disease."
The study presented at the assembly also showed that World Trade Center rescue workers who have the A1AT protein deficiency and who were exposed to the irritants of the environment at that time had more of a rapid decline in lung function than compared with those who were also exposed but whose protein levels were normal.
