4th March 2024

A 36-year-old male presents to the respiratory clinic with progressive shortness of breath

A 36-year-old male presents to the respiratory clinic with progressive shortness of breath, dry cough and occasional wheezing. His breathlessness occurs predominantly on exertion and is limiting his exercise tolerance. He is a non-smoker and does not take any alcohol or drugs. He has no significant past medical history. Pulmonary function tests show reduced FEV1 and FEV1/FVC ratio with a normal FVC. High-resolution chest CT shows a pan lobular emphysema with basal predominance. Blood tests showed an ongoing mild transaminitis with USS changes suggestive of liver cirrhosis.

What is the underlying diagnosis?

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