CTICasesFamilial Connective Tissue Disorder Mimicking Alpha-1 Antitrypsin Deficiency
Imaging findings
Chest CT in a young non-smoker demonstrates progressive, severe, basilar-predominant panlobular emphysema and diffuse cylinder-to-cystic bronchiectasis. Lab workup confirmed normal alpha-1 antitrypsin levels.
Key takeaways
Basilar-predominant emphysema and bronchiectasis in a young, non-smoking patient is highly suspicious for alpha-1 antitrypsin deficiency. If levels are normal, familial connective tissue diseases or heritable disorders of elastin support (such as cutis laxa or other elastolysis syndromes) should be investigated, particularly when there is a family history of lung transplantation or severe bronchiectasis.
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