Genetic disorder linked to rapid lung function decline in some World Trade Center rescue workers

A rare genetic disorder known as alpha-1 antitrypsin (A1AT) deficiency may predispose patients to developing lung conditions, but a new rapid-response test could help identify patients with the deficiency before significant lung damage has occurred.

New research presented at CHEST 2006, the 72nd annual international scientific assembly of the American College of Chest Physicians (ACCP), shows that World Trade Center rescue workers deficient in the A1AT protein who were exposed to environmental irritants had more rapid decline in lung function compared with exposed workers with normal levels of protein. A1AT deficiency alters the ability of the lungs and liver to control the naturally-occurring healing process, thereby leading to unchecked inflammation in these areas. Individuals with low levels of A1AT are at an increased risk for chronic lung and liver disorders.

"A1AT deficiency is a genetic defect with variable penetrance," said the study's lead researcher Gisela Banauch, MD, Montefiore Medical Center, New York, NY. "Some with the defect will develop emphysema early, even without cigarette smoking. Others, with less penetrance, may need to be exposed to additional environmental irritants in order to develop emphysema and other forms of obstructive airway disease."

Dr. Banauch and colleagues followed 90 World Trade Center (WTC) rescue workers from October 2001 through 2005. Patients underwent annual lung function testing and, in September 2005, all patients were offered A1AT testing. Of the patients, 11 were categorized as either severely or moderately A1AT deficient, while the remaining patients showed normal A1AT levels. Results showed that severely deficient patients had significantly faster post-WTC lung function declines than all other subjects, while moderately deficient patients experienced faster lung function declines than normal patients. Prior to the WTC disaster, A1AT-deficient patients showed no accelerated lung functio

Contact: Jennifer Stawarz
American College of Chest Physicians

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