Is your shortness of breath really from COPD?

Most people have no idea that lung disease, including emphysema, can also be caused by a rare genetic condition called alpha-1antitrypsin deficiency (AAT deficiency for short). In simple terms, AAT is a critical protein normally found in your lungs and bloodstream. It helps protect your lungs from diseases such as emphysema. But if you don’t have enough of it, you’re far more likely to develop lung disease.

If you haven't previously heard of alpha-1 antitrypsin deficiency (sometimes also referred to as AATD), you can read a good topic review published in January’s Canadian Family Physician (click here for the full free text of the review). It's a little technical in spots but overall provides a fairly understandable overview of the condition, causes, symptoms and treatment options.

People with alpha-1 antitrypsin deficiency develop the first signs and symptoms of lung disease at a younger age, usually between ages 20 and 50. The earliest symptoms are things like shortness of breath after doing mild activity, reduced ability to exercise, and wheezing. Other signs can include unintentional weight loss, recurring respiratory infections, fatigue, and rapid heartbeat upon standing.

It’s believed that up to 3% of patients with diagnosed COPD actually suffer with AAT deficiency instead – that’s 360,000 people. But only about 6% of people with this deficiency know they have it!

This also means you could be getting the WRONG treatment! Why? COPD medications that provide temporary relief from shortness of breath episodes simply mask the symptoms of AATD - so you get worse and don’t know why. In our opinion, if you suffer from chronic shortness of breath, you should ask your doctor to be tested for AATD. The simple blood test is reimbursable by most insurance companies and Medicare. And the good news is that an effective AATD treatment option exists - a blood plasma replacement therapy that essentially introduces elevated levels of the missing AAT protein into the bloodstream and can help halt the progression of further lung function deterioration.

To learn more about how to talk to your doctor about getting tested, you can visit http://www.testtodaychangetomorrow.com/. This site was created by one of the leading pharmaceutical companies that produce a plasma replacement therapy for AATD patients. It provides a checklist you can complete and print to take to your doctor to help you get tested. This checklist can be especially helpful if you are currently managing your breathlessness through your primary care physician instead of a pulmonologist given that many primary care doctors have little to no knowledge of AAT!