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

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

doi:10.3390/diagnostics11050762

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.

Highlights

Idiopathic pulmonary fibrosis (IPF) is a progressive and almost invariably fatal interstitial lung disease (ILD), of unknown etiology, which is characterized by progressive fibrosis and loss of lung function [1,2]
There was a statistically significant difference in the HRTC pattern between the two groups: sporadic IPF patients had a predominantly typical usual interstitial pneumonia (UIP) pattern compared to familial IPF patients (60.0% vs. 21.1%, respectively)
The high-resolution computed tomography (HRCT) for 6/19 patients with a familial pulmonary fibrosis at the onset of symptoms had an alternative diagnosis pattern: this was due to the presence of a fibrotic nonspecific interstitial pneumonia (NSIP) pattern in 4/19 patients, whilst in 2/19 patients it was due to the presence of honeycombing with uppermid lung distribution

Summary

Introduction

Idiopathic pulmonary fibrosis (IPF) is a progressive and almost invariably fatal interstitial lung disease (ILD), of unknown etiology, which is characterized by progressive fibrosis and loss of lung function [1,2]. Historical data suggest a median time from IPF diagnosis to death of only 2–3 years, long-term survival is likely to increase as patients are diagnosed earlier and are given treatment able to slow down disease progression [1,2,3,4]. 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 aimed at evidencing any differences in the HRTC pattern between the familial and sporadic form at diagnosis and after two years. Further studies are required to clarify how these genetic factors may guide clinical treatment decisions

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Discussion

Conclusion