CTICasesFamilial Interstitial Lung Disease due to hTERT Mutation
Imaging findings
High-resolution chest CT scans of two siblings reveal distinct patterns of interstitial lung disease. The first sibling (female, 57) demonstrates upper-lobe-predominant subpleural consolidation, pleural thickening, and traction bronchiectasis pathologically proven to be pleuroparenchymal fibroelastosis (PPFE). The second sibling (male, 48) demonstrates diffuse reticulation and traction bronchiectasis without classic honeycombing, pathologically proven to be a usual interstitial pneumonia (UIP) pattern.
Key takeaways
Mutations in telomere-related genes such as hTERT (human telomerase reverse transcriptase) are strongly associated with familial interstitial lung disease. Interestingly, different members of the same family carrying the same mutation can manifest vastly different imaging and histopathologic patterns of fibrosis, including PPFE, UIP, and non-specific interstitial pneumonia (NSIP).
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