Do You Have Genetic COPD?

Tuesday, November 25, 2008 General News
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LOS ANGELES, Nov. 24 To everyone around her, Melissa Biggsappeared to have it all -- a thriving acting career, a successful clothingline that was attracting international attention, and an adoring daughter.What people didn't know was that for years, Melissa suffered from severebreathing problems, extreme shortness of breath, and that her doctors couldn'tfind the cause.

After multiple breathing-related incidents, including a collapse while shewas rehearsing a scene on the set of the television program Baywatch, Melissawas finally diagnosed with Alpha-1 Antitrypsin Deficiency, or AATD. AATD isoften referred to as a genetic form of Chronic Obstructive Pulmonary Disease,or COPD.

According to the Centers for Disease Control and Prevention, COPD is thefourth leading killer in the United States and is also widely recognized asone of the most common causes of disability. The National Institutes of Health(NIH) estimates that 12 million individuals have been diagnosed with COPD inthe U.S. alone, with an additional 12 million people being symptomatic or inthe process of developing COPD. It is thought to affect primarily smokers andthe elderly, though the number of younger people diagnosed is slowlyincreasing.

What many people don't know is that COPD has a genetic form -- AATD --which is extremely under- or misdiagnosed. Of the estimated 100,000 people inthe U.S. who may have this disorder, 95 percent have not yet been diagnosed.A recent study conducted by the Respiratory and Allergic Disease Foundationfound that more than 3 percent of study participants diagnosed with severeasthma or COPD actually tested positive for low levels of alpha-1 antitrypsin.Alpha-1 antitrypsin is a protein produced by the liver that protects the lungsfrom being damaged. A lack of this protein in the body is the cause of thisdisorder. Symptoms of AATD include shortness of breath, wheezing, repeatedlung infections, and cough. In its late stages or if left untreated, AATD cancause significant lung damage, emphysema, and cirrhosis of the liver.

On average, it takes patients six years to obtain a proper diagnosis ofAATD because tests for the condition aren't often performed. The condition isgenetic, and Melissa urged her family members and daughter to be tested. Notsurprisingly, many relatives received the same diagnosis. Medications calledalpha-1 proteinase inhibitors are available for the treatment of AATD, andreplace the missing protein that helps the lungs function properly.

"A simple blood test is all that is needed to detect AATD," said PeterWagner, MD, former president of the American Thoracic Society. "Receiving aproper and prompt diagnosis can make a real difference in the lives ofpatients by allowing them to receive appropriate medical care sooner and canhave a profound impact on a family's health for generations to come."

Today, with treatment, Melissa is able to manage her COPD and lead thelife everyone thought she had -- without the stress of an undiagnosedbreathing condition threatening her success. She continues to pursue newacting opportunities and her clothing design company is thriving. She haseven begun to take up breathing-intensive activities, such as tennis.

"I'm so thankful I was tested early, because it could be a lot worse,"Melissa added.

If you or someone you know has any of the symptoms of AATD, or has beendiagnosed with severe asthma or COPD, visit www.TestTodayChangeTomorrow.comfor more information and an AATD screening test.


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