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        Genomics Precision Diagnostic > Pulmonology > Idiopathic Pulmonary Fibrosis

        Idiopathic Pulmonary Fibrosis

        Idiopathic Pulmonary Fibrosis (IPF) is a specific form of chronic, progressive lung disease defined as the presence of progressive lung scarring in the form of fibrosing interstitial pneumonia of unknown cause with the histopathological finding of usual interstitial pneumonia (UIP).
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Idiopathic Pulmonary Fibrosis (IPF) is a specific form of chronic, progressive lung disease defined as the presence of progressive lung scarring in the form of fibrosing interstitial pneumonia of unknown cause with the histopathological finding of usual interstitial pneumonia (UIP). Although the etiology is unknown, there probably is an effect of endogenous and exogenous micro-environmental factors in subjects together with genetic predisposition. All of this causes repetitive micro-injury to the lung tissue and vasculature, triggering and inflammatory response and ultimately fibrosis. It occurs primarily in older adults, and the progressive lung scarring over time results in reduced oxygen intake.  

        • The Igenomix Idiopathic Pulmonary Fibrosis Precision Panel can be used as a diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes. 

        Indication

        The Igenomix Idiopathic Pulmonary Fibrosis Precision Panel is indicated in those cases where there is a clinical suspicion of IPF with or without the following manifestations during at least six months:  

        • Weight loss 
        • Low-grade fevers 
        • Fatigue 
        • Arthralgias (articular pain) 
        • Myalgias (muscular pain) 
        • Gradual onset shortness of breath with exertion 
        • Non-productive cough 

        Clinical Utility

        The clinical utility of this panel is:  

        • The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis. 
        • Early initiation of treatment with a multidisciplinary team for treatment of comorbid medical conditions as well as initiate early supportive treatment, surgical treatment and regular surveillance of pulmonary function.   
        • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Martinez, F. J., Collard, H. R., Pardo, A., Raghu, G., Richeldi, L., Selman, M., Swigris, J. J., Taniguchi, H., & Wells, A. U. (2017). Idiopathic pulmonary fibrosis. Nature reviews. Disease primers, 3, 17074. https://doi.org/10.1038/nrdp.2017.74 

        Sgalla, G., Iovene, B., Calvello, M., Ori, M., Varone, F., & Richeldi, L. (2018). Idiopathic pulmonary fibrosis: pathogenesis and management. Respiratory research, 19(1), 32. https://doi.org/10.1186/s12931-018-0730-2 

        Xaubet, A., Ancochea, J., & Molina-Molina, M. (2017). Idiopathic pulmonary fibrosis. Fibrosis pulmonar idiopática. Medicina clinica, 148(4), 170–175. https://doi.org/10.1016/j.medcli.2016.11.004 

        Sharif R. (2017). Overview of idiopathic pulmonary fibrosis (IPF) and evidence-based guidelines. The American journal of managed care, 23(11 Suppl), S176–S182. 

        Glass, D. S., Grossfeld, D., Renna, H. A., Agarwala, P., Spiegler, P., Kasselman, L. J., Glass, A. D., DeLeon, J., & Reiss, A. B. (2020). Idiopathic pulmonary fibrosis: Molecular mechanisms and potential treatment approaches. Respiratory investigation, 58(5), 320–335. https://doi.org/10.1016/j.resinv.2020.04.002 

        Idiopathic Pulmonary Fibrosis NGS Panel – Tests – GTR – NCBI. (2021). Retrieved 22 February 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/324884.5/ 

        Raghu, G., Collard, H., Egan, J., Martinez, F., Behr, J., & Brown, K. et al. (2011). An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management. American Journal Of Respiratory And Critical Care Medicine, 183(6), 788-824. doi: 10.1164/rccm.2009-040gl 

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