TalkGenetic Disorder Linked to Lung Problems of World Trade Center Rescue Workers
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:
“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.
Read more:
- Why Alpha-1 affects people differently
- Alpha-1 Foundation
- DNA Direct’s Alpha-1 Resource Center
Technorati Tags: alpha-1 antitrypsin deficiency, world trade center, rescue workers, lung disease, diagnosis, a1at deficiency, copd, risk factors, genetic disorder
October 27th, 2006 at 7:13 pm
Thank you for writing about this disease and how underdiagnosed it is. Actually Dr. Robert Sandhaus Clinical Director for the Alpha 1 Foundation states that there are likely 500,000 severely affected and 20 million carriers in No America.
November 6th, 2006 at 11:56 am
Hi Marianne, thanks for your comment. Yes, it’s important to note that true numbers of Alpha 1 carriers are still not known - although based on research and their experience, experts such as Dr. Sandhaus and those quoted recently in the media estimate that affected rates and carrier rates are high. I suspect that the media is quoting the lower numbers, trying to be conservative.
It’s my hope that this news about the WTC rescue workers will bring more media attention to Alpha 1, assisting in awareness, increased diagnosis, and a better understanding of Alpha 1. If we can increase the awareness and understanding of who is a carrier and what it means to be a carrier, perhaps we can prevent and/or delay the onset of this condition.