Have you been told you have COPD? Has anyone else in your family had COPD, or unexplained liver disease, or a skin condition called panniculitis? If you have COPD, whether you smoke or not, whether you have ever smoked or never at all, Alpha-1 antitrypsin deficiency might be the cause of your COPD. It is inherited, and there is a simple blood test that can be done, with results available quite quickly. The symptoms of COPD due to Alpha-1 antitrypsin deficiency include shortness of breath, wheezing, crackling sounds in the lungs especially at the base of the lungs, bronchiectasis, chronic cough and sputum production, and recurring respiratory infections. The symptoms of Alpha-1 liver disease include jaundice, elevated liver enzymes (found by blood test), abdominal swelling, and pain in the region of the liver. If you live in the UK, you may consider going to the Royal Free in London, as an Alpha-1 clinic has recently been established there. Evaluation by consultants is important if you have Alpha-1 antitrypsin deficiency. A lot more information about Alpha-1 antitrypsin deficiency is available at alpha1.org and at alpha-1foundation.org.
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