Do You Have Genetic COPD?
To everyone around her, Melissa Biggs appeared to have it all -- a thriving acting career, a successful clothing line that was attracting international attention, and an adoring daughter. What people didn't know was that for years, Melissa suffered from severe breathing problems, extreme shortness of breath, and that her doctors couldn't find the cause.
After multiple breathing-related incidents, including a collapse while she was rehearsing a scene on the set of the television program Baywatch, Melissa was finally diagnosed with Alpha-1 Antitrypsin Deficiency, or AATD. AATD is often referred to as a genetic form of Chronic Obstructive Pulmonary Disease, or COPD.
According to the Centers for Disease Control and Prevention, COPD is the fourth leading killer in the United States and is also widely recognized as one of the most common causes of disability. The National Institutes of Health (NIH) estimates that 12 million individuals have been diagnosed with COPD in the U.S. alone, with an additional 12 million people being symptomatic or in the process of developing COPD. It is thought to affect primarily smokers and the elderly, though the number of younger people diagnosed is slowly increasing.
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 in the U.S. who may have this disorder, 95 percent have not yet been diagnosed. A recent study conducted by the Respiratory and Allergic Disease Foundation found that more than 3 percent of study participants diagnosed with severe asthma 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 lungs from being damaged. A lack of this protein in the body is the cause of this disorder. Symptoms of AATD include shortness of breath, wheezing, repeated lung infections, and cough. In its late stages or if left untreated, AATD can cause significant lung damage, emphysema, and cirrhosis of the liver.
On average, it takes patients six years to obtain a proper diagnosis of AATD because tests for the condition aren't often performed. The condition is genetic, and Melissa urged her family members and daughter to be tested. Not surprisingly, many relatives received the same diagnosis. Medications called alpha-1 proteinase inhibitors are available for the treatment of AATD, and replace the missing protein that helps the lungs function properly.
"A simple blood test is all that is needed to detect AATD," said Peter Wagner, MD, former president of the American Thoracic Society. "Receiving a proper and prompt diagnosis can make a real difference in the lives of patients by allowing them to receive appropriate medical care sooner and can have a profound impact on a family's health for generations to come."
Today, with treatment, Melissa is able to manage her COPD and lead the life everyone thought she had -- without the stress of an undiagnosed breathing condition threatening her success. She continues to pursue new acting opportunities and her clothing design company is thriving. She has even 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.