# ABCA3 Surfactant‐Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature

## TL;DR

This paper reports three adult cases of lung disease caused by ABCA3 gene variants, emphasizing the importance of genetic testing for unusual lung conditions.

## Contribution

The study contributes three unique adult cases of ILD linked to compound heterozygous ABCA3 variants, expanding understanding of this rare condition in adults.

## Key findings

- Three adult cases of ILD were found to be caused by compound heterozygous ABCA3 gene variants.
- ABCA3-related lung disease is rare in adults but should be considered in cases of unusual ILD.
- Early genetic testing is recommended for young adults with atypical interstitial lung disease.

## Abstract

Surfactant‐related gene (SRG) variants are a rare but increasingly recognised cause of interstitial lung disease (ILD) in adults. Lung disease due to pathogenic variants in the adenosine triphosphate (ATP) binding cassette subfamily A member 3 (ABCA3) gene has been extensively described among infants and children but is rarely described in an adult population. The rarity and heterogeneity of lung disease due to ABCA3 variants raise significant challenges in recognition, diagnosis and management. In this case series we present three unique adult cases of ILD secondary to compound heterozygous ABCA3 variants, review the literature to provide an overview of this disease in an adult population and highlight the role for early genetic testing in young adults presenting with unusual ILD.

Surfactant‐related gene variants are a rare but increasingly recognised cause of interstitial lung disease in adults. Lung disease due to pathogenic variants in the ABCA3 gene has been extensively described among infants and children but is rarely described in an adult population. In this case series, we present three unique adult cases of ILD secondary to compound heterozygous ABCA3 variants, review the literature to provide an overview of this disease in an adult population, and highlight the role for early genetic testing in young adults presenting with unusual ILD.