A 25 year old male comes into the office with progressive shortness of breath. He admits to a 3 year history of smoking cigarettes averaging less than 1/2 a pack per day. Physical exam shows a prolonged expiratory phase, end-expiratory wheezing, and decreased heart and breath sounds. What is a likely etiology of his current condition?
D) Alpha1 Trypsin Deficiency
Answer: This young 25 year old male appears to have emphysema. This usually develops after several years of smoking in older individuals. In this person with a short smoking history and physical findings consistent with emphysema, alpha1 Trypsin deficiency should be considered.
1. Brochert, Adam. Crush Step 2. 2nd. Philadelphia: Hanley & Belfus, 2003.
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