Elisa Baratella1, Barbara Ruaro2, Fabiola Giudici3,4, Barbara Wade5, Mario Santagiuliana2, Francesco Salton2, Paola Confalonieri2, Michele Simbolo6, Aldo Scarpa6, Saverio Tollot1, Cristina Marrocchio1, Maria Assunta Cova1, Marco Confalonieri2. 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.
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 IPFpatients 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.
Authors: David A Lynch; Nicola Sverzellati; William D Travis; Kevin K Brown; Thomas V Colby; Jeffrey R Galvin; Jonathan G Goldin; David M Hansell; Yoshikazu Inoue; Takeshi Johkoh; Andrew G Nicholson; Shandra L Knight; Suhail Raoof; Luca Richeldi; Christopher J Ryerson; Jay H Ryu; Athol U Wells Journal: Lancet Respir Med Date: 2017-11-15 Impact factor: 30.700
Authors: S Ono; T Tanaka; M Ishida; A Kinoshita; J Fukuoka; M Takaki; N Sakamoto; Y Ishimatsu; S Kohno; T Hayashi; M Senba; M Yasunami; Y Kubo; L M Yoshida; H Kubo; K Ariyoshi; K Yoshiura; K Morimoto Journal: Eur Respir J Date: 2011-08-04 Impact factor: 16.671
Authors: Joy D Cogan; Jonathan A Kropski; Min Zhao; Daphne B Mitchell; Lynette Rives; Cheryl Markin; Errine T Garnett; Keri H Montgomery; Wendi R Mason; David F McKean; Julia Powers; Elissa Murphy; Lana M Olson; Leena Choi; Dong-Sheng Cheng; Elizabeth Marchani Blue; Lisa R Young; Lisa H Lancaster; Mark P Steele; Kevin K Brown; Marvin I Schwarz; Tasha E Fingerlin; David A Schwartz; William E Lawson; James E Loyd; Zhongming Zhao; John A Phillips; Timothy S Blackwell Journal: Am J Respir Crit Care Med Date: 2015-03-15 Impact factor: 21.405
Authors: Mary Y Armanios; Julian J-L Chen; Joy D Cogan; Jonathan K Alder; Roxann G Ingersoll; Cheryl Markin; William E Lawson; Mingyi Xie; Irma Vulto; John A Phillips; Peter M Lansdorp; Carol W Greider; James E Loyd Journal: N Engl J Med Date: 2007-03-29 Impact factor: 91.245
Authors: Gary M Hunninghake; Hiroto Hatabu; Yuka Okajima; Wei Gao; Josée Dupuis; Jeanne C Latourelle; Mizuki Nishino; Tetsuro Araki; Oscar E Zazueta; Sila Kurugol; James C Ross; Raúl San José Estépar; Elissa Murphy; Mark P Steele; James E Loyd; Marvin I Schwarz; Tasha E Fingerlin; Ivan O Rosas; George R Washko; George T O'Connor; David A Schwartz Journal: N Engl J Med Date: 2013-05-21 Impact factor: 91.245
Authors: Pablo Cingolani; Viral M Patel; Melissa Coon; Tung Nguyen; Susan J Land; Douglas M Ruden; Xiangyi Lu Journal: Front Genet Date: 2012-03-15 Impact factor: 4.599
Authors: Lloyd Tanner; Jesper Bergwik; Andrew B Single; Ravi K V Bhongir; Jonas S Erjefält; Arne Egesten Journal: Front Pharmacol Date: 2022-06-02 Impact factor: 5.988
Authors: Barbara Ruaro; Elisa Baratella; Paola Confalonieri; Marco Confalonieri; Fabio Giuseppe Vassallo; Barbara Wade; Pietro Geri; Riccardo Pozzan; Gaetano Caforio; Cristina Marrocchio; Maria Assunta Cova; Francesco Salton Journal: Diagnostics (Basel) Date: 2021-12-07
Authors: Barbara Ruaro; Francesco Salton; Elisa Baratella; Paola Confalonieri; Pietro Geri; Riccardo Pozzan; Chiara Torregiani; Roberta Bulla; Marco Confalonieri; Marco Matucci-Cerinic; Michael Hughes Journal: Diagnostics (Basel) Date: 2022-03-01