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.