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SM Case Reports

Idiopathic Pulmonary Fibrosis Associated with Alpha1-Antitrypsin Deficiency: Concomitant Finding or Real Association?

[ ISSN : 2473-0688 ]

Abstract
Details

Received: 02-Dec-2017

Accepted: 31-Dec-2017

Published: 03-Jan-2018

Alessandro Giuseppe Calabrò¹, Elena Torricelli¹, Elisabetta Rosi¹, Chiara Cresci¹, Anna Maria Grosso¹, Moroni Chiara², Katia Ferrari¹, Massimo Pistolesi¹, Luca Voltolini³, and Elena Bargagli¹*

¹Section of Respiratory Medicine, Department of Clinical and Experimental Biomedical Sciences, Careggi University Hospital, Florence, Italy

²Section of Radiology, Department of Emergency Radiology, Careggi University Hospital, Florence, Italy

³Section of Thoracic Surgery, Department of Surgery and Translational Medicine (DCMT), Careggi University Hospital, Florence, Italy

Corresponding Author:

Elena Bargagli, Section of Respiratory Medicine, Department of Clinical and Experimental Biomedical Sciences, Careggi University Hospital, Florence, Italy, Tel: 00390557946351; Email: bargagli2@gmail.com

Keywords

Rare lung disease; Idiopathic pulmonary fibrosis; Alpha1-antitrypsin deficiency; Liver cirrhosis; Lung

Abstract

Background: Idiopathic Pulmonary Fibrosis (IPF) is a chronic and progressive fibrotic interstitial lung disease of unknown etiology. It is unrelated to Alpha1-Antitrypsin Deficiency (AATD). Despite the progress in the pathogenetic knowledge, many aspects are still unclear. Lung fibrosis is actually regarded as a consequence of a chronic epithelial lung injury characterized by irreversible fibroblast activation and abundant amounts of collagens and other extracellular matrix substances deposition. Several proteins involved in oxidant/antioxidant balance and protease/antiprotease equilibrium have been associated with lung fibrogenesis, although AATD has never been clearly correlated with IPF development.

Case presentation: In this paper, we describe the history of twin homozygous sisters with a familiar homozygous Z type deficiency for Alpha1-Antitrypsin (AAT). One presented liver cirrhosis and the other twin sister developed IPF. This IPF patient with Z/Z mutation and very low AAT serum concentration had no signs of pulmonary emphysema, asthma or liver cirrhosis but she showed only radiological findings of IPF, and she started antifibrotic therapy.

Conclusion: An unusual association between the most common mutation in AAT (Z/Z mutation) and IPF development was reported in this letter supporting the hypothesis that antiprotease AAT maybe involved in IPF pathogenesis.

Citation

Calabrò AG, Torricelli E, Rosi E, Cresci C, Grosso AM, Chiara M, et al. Idiopathic Pulmonary Fibrosis Associated with Alpha1-Antitrypsin Deficiency: Concomitant Finding or Real Association? SM J Case Rep. 2017; 3(8): 1075.

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