lung and airway disorders
Alpha 1 Antitrypsin Deficiency
Diagnosis of Alpha 1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is suspected in the following: Infants who have typical symptoms Smokers who develop emphysema before age 45 Nonsmokers who develop emphysema at any age People with an unexplained liver disorder People who develop panniculitis People with a family history of emphysema or unexplained cirrhosis People with a family history of alpha-1 antitrypsin deficiency Because the deficiency is inherited, doctors usually ask whether any family members have had emphysema or cirrhosis with no known cause. The deficiency is usually confirmed by genetic testing, which also can determine the specific form of the deficiency. Doctors also usually do blood tests to measure the level of alpha-1 antitrypsin. 