Alpha 1-Antitrypsin is very commonly misdiagnosed. Your doctor can perform some tests to diagnose Alpha 1-Antitrypsin Deficiency.
It will need to be differentiated from Asthma and COPD caused by smoking.
Pulmonary Function testing can be used to differentiate between Alpha 1 and Asthma. Reversibility testing will likely be performed. In asthma the symptoms can be reverse or eliminated by the use of medication. Usually there is a very low level of reversibility in Alpha 1-Antitrypsin Deficiency.
COPD caused by smoking is very similar to COPD caused by an Alpha 1-Antitrypsin deficiency. However, there are usually some difference seen on X-ray or CT. COPD caused by smoking usually causes emphysema in the upper lobes of the lungs, while COPD caused by Alpha 1-Antitrypsin affects the lower lobes. This is a reason why lung volume resection surgery is not usually a viable option - it usually is only available to emphysema in the upper lobes. Another differentiating factor is that COPD caused by Alpha 1-Antitrypsin deficiency is early onset (usually under the age of 45). COPD caused by smoking generally presents at a later age.
Patients usually go to several doctors over a period of several years before they are properly diagnosed.
This can be frustrating for the patients, and also delay the appropriate treatment!
More information about specific tests:
Medline Plus: Pulmonary Function Tests
Medline Plus: CT Scans
