Cytoskeleton and elastin disorders Quiz: Ace Your Exams

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A 37-year-old woman comes to the office for evaluation of shortness of breath. Previously, she was able to jog several miles per day, but she now becomes out of breath after walking a couple of blocks. The patient has also experienced mild wheezing and a productive cough. Past medical history is insignificant, and the patient does not take any medications. Family history is notable for the death of the patient’s father from liver cirrhosis at a young age. The patient does not consume alcohol, tobacco, or illicit substances. Temperature is 37.1°C (98.8°F), pulse is 76/min, respirations are 22/min, and blood pressure is 125/65 mmHg. Bilateral rhonchi are heard on lung auscultation. Cardiac examination is unremarkable. Laboratory results are shown below:

 Laboratory Value  Result 
 Glucose  100 mg/dL 
 Creatinine   0.6 g/dL 
 BUN  10 mg/dL 
 Alanine aminotransferase (ALT)  49 U/L 
 Aspartate aminotransferase (AST)  46 U/L 
 Alkaline phosphatase   100 U/L 

Spirometry is notable for an FEV1/FVC ratio of 60%. Which of the following is the most likely underlying etiology of this patient’s presentation?  

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