Alpha -1 Antitrypsin Deficiency

Ira Shah
Alpha -1 Antitrypsin Deficiency - Diagnosis
Most patients with alpha-1 antitrypsin deficiency have shortness of breath, chronic cough and abnormal liver function tests. Based on above findings, if there is suspicion of alpha-1-antitrypsin deficiency, then its presence can be detected by serum protein electrophoresis. Since alpha-1 antitrypsin is the predominant glycoprotein responsible for the a 1 globulin band on routine protein electrophoresis, that band is absent in its deficiency. Serum protein electrophoresis is also recommended in relatives of a patient with diagnosed alpha-1 antitrypsin deficiency or if there is a family history of early emphysema especially in non-smokers.The protease inhibitor (Pi) phenotyping system classifies the variants by letters in the alphabet. The slowest moving glycoprotein is labeled PiZ, while faster moving protein complexes can be identified by earlier letters in the alphabet. Patients with alpha-l-antitrypsin levels of 11um/L (80mg%) or less are at increased risk of emphysema. Individuals diagnosed as alpha-1 antitrypsin deficient should undergo pulmonary function tests, blood gas analysis, chest X-Ray, electrocardiogram and graded exercise test. In case of cirrhosis, a liver biopsy is indicated.

Alpha -1 Antitrypsin Deficiency Alpha -1 Antitrypsin Deficiency 03/05/2001
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