Genetic Disorder Linked to Lung Problems of World Trade Center Rescue Workers
Posted Nov 19 2009 10:02pm
Sounds like the WTC rescue workers who have had serious lung disease problems have a genetic disorder that increases risk of COPD and lung disease when combined with environmental factors (such as smoke, particulates and the like). This condition, called Alpha-1 Antitrypsin Deficiency, is suspected as being as one of the biggest unknown, and underdiagnosed, genetic conditions.
“A1AT deficiency is underrecognized and underdiagnosed,” said the study’s coauthor David J. Prezant, MD, FCCP, Montefiore Medical Center. “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 COPD but are showing symptoms of disease.”
An estimated 150,000 people in North America have A1AT deficiency, but only about 5 percent of these people have been diagnosed, reinforcing the need for effective awareness and screening programs that lead to diagnosis and treatment.
“Early and proper diagnosis of A1AT deficiency is vital to managing and treating this chronic lung and liver disorder,” says Mark J. Rosen, MD, FCCP, President of the American College of Chest Physicians.
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Sounds like the WTC rescue workers who have had serious lung disease problems have a genetic disorder that increases risk of COPD and lung disease when combined with environmental factors (such as smoke, particulates and the like). This condition, called Alpha-1 Antitrypsin Deficiency, is suspected as being as one of the biggest unknown, and underdiagnosed, genetic conditions.
Since DNA Direct has Alpha-1 testing services, I’m going to let an article from Medical News Today tell you about why this is big news:
“Early and proper diagnosis of A1AT deficiency is vital to managing and treating this chronic lung and liver disorder,” says Mark J. Rosen, MD, FCCP, President of the American College of Chest Physicians.
Read more:
This entry was posted on Friday, October 27th, 2006 at 10:48 am and is filed under Rare Genetic Conditions. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.