# Familial interstitial lung disease: emerging insights into screening and genetic risk

## TL;DR

This review explores how genetics and imaging help understand and screen for familial pulmonary fibrosis, a type of lung disease that runs in families.

## Contribution

The paper integrates recent advances in genetics, radiology, and clinical strategies for early detection and prevention of familial pulmonary fibrosis.

## Key findings

- Genetic variants in telomere-related genes, surfactant proteins, and MUC5B influence familial pulmonary fibrosis risk and progression.
- High-resolution CT scans detect early lung abnormalities in at-risk relatives, especially those with known genetic mutations.
- Combining genetic, radiologic, and biomarker data may improve risk assessment and enable early intervention for familial pulmonary fibrosis.

## Abstract

Familial pulmonary fibrosis (FPF) is increasingly recognized as a distinct entity within the spectrum of interstitial lung diseases (ILDs), characterized by a significant genetic contribution involving genetic variation telomere-related genes, surfactant protein genes, and the MUC5B promoter polymorphism. These variants influence disease susceptibility, clinical course, and prognosis. Moreover, high-resolution computed tomography (HRCT) has revealed interstitial lung abnormalities (ILAs) as early manifestations in at-risk relatives, particularly amongst individuals with pathogenic variants, highlighting its central role in early detection. Despite substantial progress, significant challenges persist, particularly regarding the unidentified genetic variants in a considerable proportion of cases and the psychosocial impact associated with familial screening. Some studies suggest that HRCT-based surveillance from age 50 and genetic testing in affected individuals. Looking ahead, integrative approaches combining genetic, radiologic, functional, and biomarker data may enhance risk stratification and enable early intervention, moving towards a paradigm where FPF becomes a preventable condition rather than a relentlessly treatable progressive disease. This review addresses FPF, integrating advances in genetics, radiology, and clinical management. It highlights key developments in telomere biology, surfactant genes, and MUC5B, and discusses evidence-based strategies for screening and prevention, providing relevant insights for clinicians and researchers in ILD.