Young man with family history of โlung and liver problemsโ and 25 pack-year smoking history presenting with chronic progressive shortness of breath with expiratory wheezes found to have elevated LFTs on exam, most consistent with emphysema in the setting of alpha-1 antitrypsin syndrome
Key idea: Alpha-1 antitrypsin is a co-dominant disorder, with homozygous patients developing emphysema and cirrhosis and heterozygous patients being highly prone to emphysema with smoking
Progressive respiratory difficulty and bilateral expiratory wheezes before age 50 with abnormal LFTs and a family history of "lung and liver problems" suggests alpha-1 antitrypsin deficiency. Pulmonary presentation is panacinar emphysema.
submitted by โstep_prep7(71)
- Young man with family history of โlung and liver problemsโ and 25 pack-year smoking history presenting with chronic progressive shortness of breath with expiratory wheezes found to have elevated LFTs on exam, most consistent with emphysema in the setting of alpha-1 antitrypsin syndrome
- Key idea: Alpha-1 antitrypsin is a co-dominant disorder, with homozygous patients developing emphysema and cirrhosis and heterozygous patients being highly prone to emphysema with smoking
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