Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis

Elisa Baratella; Barbara Ruaro; Fabiola Giudici; Barbara Wade; Mario Santagiuliana; Francesco Salton; Paola Confalonieri; Michele Simbolo; Aldo Scarpa; Saverio Tollot; Cristina Marrocchio; Maria Assunta Cova; Marco Confalonieri

doi:10.3390/diagnostics11050762

Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis

Diagnostics (Basel). 2021 Apr 23;11(5):762. doi: 10.3390/diagnostics11050762.

Affiliations

¹ Department of Radiology, Cattinara Hospital, University of Trieste, 34127 Trieste, Italy.
² Department of Pulmonology, University Hospital of Cattinara, 34127 Trieste, Italy.
³ Biostatistics Unit, Department of Medicine, Surgery and Health Sciences, Cattinara Hospital, University of Trieste, 34127 Trieste, Italy.
⁴ Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35131 Padua, Italy.
⁵ AOU City of Health and Science of Turin, Department of Science of Public Health and Pediatrics, University of Torino, 10126 Torino, Italy.
⁶ Section of Pathology, Department of Diagnostics and Public Health, University of Verona, 37219 Verona, Italy.

Abstract

Background: Idiopathic pulmonary fibrosis (IPF) is a progressive fibrosing interstitial lung disease (ILD). This prospective observational study aimed at the evaluation of any correlation between genetic variants associated with IPF susceptibility and high-resolution computed tomography (HRCT) patterns. It also aimed at evidencing any differences in the HRTC pattern between the familial and sporadic form at diagnosis and after two years.

Methods: A total of 65 IPF patients (mean age at diagnosis 65 ± 10) were enrolled after having given written informed consent. HRCT and genetic evaluations were performed.

Results: A total of 19 familial (mean age 62 ± 15) and 46 sporadic (mean age 70 ± 9) IPF patients were enrolled. A statistically significant difference was evidenced in the HRTC pattern at diagnosis between the two groups. Sporadic IPF patients had a predominantly usual interstitial pneumonia (UIP) pattern compared with those patients with familial IPF (60.0% vs. 21.1%, respectively). Moreover, familial IPF patients had more alternative diagnoses than those with sporadic IPF (31.6% vs. 2.2%, respectively). Furthermore, there was a slight increase in the typical UIP pattern in the familial IPF group at two years from diagnosis.

Conclusions: Genetic factors play a pivotal role in the risk of developing IPF. However, further studies are required to clarify how these genetic factors may guide clinical treatment decisions.

Keywords: familial idiopathic pulmonary fibrosis; high-resolution computed tomography (HRCT); idiopathic pulmonary fibrosis; interstitial lung disease.