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

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.

Interstitial Lung Disease at High Resolution CT after SARS-CoV-2-Related Acute Respiratory Distress Syndrome According to Pulmonary Segmental Anatomy

“…A total of 44 consecutive patients, who had been admitted to the Respiratory High-Dependency Unit (RHDU) of the University Hospital of Trieste between 1 October 2020 and 30 November 2020 with a SARS-CoV-2 infection, demonstrated by a positive reverse transcriptase polymerase chain reaction (RT-PCR) test on either a nasopharyngeal swab or bronchoalveolar lavage, were retrospectively retrieved. Any patients with (i) a previous clinical history of lung disease; (ii) age < 18 years; or (iii) inadequate HRCT due to motion artifacts were excluded from the study [11][12][13][14]. Inclusion criteria were: (1) SARS-CoV-2 positive (on swab or bronchial wash); (2) age > 18 years and <80 years; (3) PaO 2 :FiO 2 < 250 mmHg; (4) bilateral infiltrates at chest radiography; (5) CRP > 100 mg/L; and/or (6) diagnosis of acute respiratory distress syndrome (ARDS) according to the Berlin definition during hospitalization; and (7) at least one HRCT performed within 3 months after hospital discharge as an alternative to criteria (4) and (5) [11][12][13][14].…”

“…Any patients with (i) a previous clinical history of lung disease; (ii) age < 18 years; or (iii) inadequate HRCT due to motion artifacts were excluded from the study [11][12][13][14]. Inclusion criteria were: (1) SARS-CoV-2 positive (on swab or bronchial wash); (2) age > 18 years and <80 years; (3) PaO 2 :FiO 2 < 250 mmHg; (4) bilateral infiltrates at chest radiography; (5) CRP > 100 mg/L; and/or (6) diagnosis of acute respiratory distress syndrome (ARDS) according to the Berlin definition during hospitalization; and (7) at least one HRCT performed within 3 months after hospital discharge as an alternative to criteria (4) and (5) [11][12][13][14].…”

Lung Tissue Microbiome Is Associated With Clinical Outcomes of Idiopathic Pulmonary Fibrosis

“…The pathogenesis of IPF involves both genetic (2,3) and environmental factors (4,5). Repeated epithelial injuries caused by multiple environmental factors, such as smoking, microaspiration, organic and inorganic dust, and viral infection (4,5), can lead to the abnormal wound healing process, such as epithelial-mesenchymal transition (6) in genetically susceptible individuals who have a mutation in airway defense (MUC5B), telomerase function (TERT), or immune responses (TOLLIP, TLR3, and IL1RN) (2,3,7). Much evidence supports an association between the etiology of several viruses (8)(9)(10)(11), and the development or acute exacerbation (AE) of IPF (12,13).…”

“…It is characterized by worsening dyspnea, impaired lung function, decreased quality of life, and a poor prognosis ( 1 ). The pathogenesis of IPF involves both genetic ( 2 , 3 ) and environmental factors ( 4 , 5 ). Repeated epithelial injuries caused by multiple environmental factors, such as smoking, micro-aspiration, organic and inorganic dust, and viral infection ( 4 , 5 ), can lead to the abnormal wound healing process, such as epithelial-mesenchymal transition ( 6 ) in genetically susceptible individuals who have a mutation in airway defense ( MUC5B ), telomerase function ( TERT ), or immune responses ( TOLLIP, TLR3 , and IL1RN ) ( 2 , 3 , 7 ).…”

Recognition of Connective Tissue Disease-Related Interstitial Pneumonia Based on Histological Score—A Validation Study of an Online Diagnostic Decision Support Tool

“…Idiopathic interstitial pneumonias (IIPs) are interstitial pneumonias (IPs) that have no clear systemic disease or cause; they are classified into various types based on the clinical, radiologic, and pathological findings [1][2][3]. Among the different types of IIPs, idiopathic pulmonary fibrosis (IPF) has the worst prognosis.…”