IS IT REALLY A DISEASE OF CAUCASIANS? A YOUNG NON SMOKER MALE HAVING ADVANCED EMPHYSEMA DUE TO SEVERE ALPHA-1 ANTITRYPSIN DEFICIENCY

Abstract

Alpha-1 antitrypsin deficiency (A1AD) is an under-recognised disorder having more than 3 million people globally with different allele combinations associated with severe A1AD1. Although A1AD is predominantly a disease of Caucasians, it can affect other races and clinicians taking care of patients with respiratory diseases should have a suspicion of this disorder especially in younger individuals presenting with emphysema2,3,4. The current goal in its treatment is to raise the plasma alpha-1 antitrypsin (A1AT) level above the protective threshold by means of intravenous augmentation therapy and considering lung transplantation in individuals suffering from severe disease.A 35 year old non smoker male, landlord, resident of Bahawalpur, was seen in the pulmonary clinic, with a history of progressive exertional dyspnea and occasional wheezing of 6 years duration.