LAUSR

We read with great interest the article by Newton et al. [1]. They found that mutations in the telomere maintenance machinery genes (telomerase reverse transcriptase (TERT), telomerase RNA component (TERC), regulator of telomere elongation helicase 1 and poly(A)-specific ribonuclease) led to variable interstitial lung disease (ILD) phenotypes that were universally progressive [1]. We were particularly interested by the evidence for the first time in the literature of a telomere-related gene mutation associated with pleuroparenchymal fibroelastosis (PPFE). PPFE represented eight out of the 77 (10.4%) cases with genetic aberrations, which is intriguing compared with the rarity of disease among ILDs. Indeed, a possible familial propensity for the development of PPFE was originally suggested by our earlier report of three affected sisters [2]. According to other published studies, a family history of ILD is observed in 17–57% of PPFE patients [3–5]. Five cases with telomerase reverse transcriptase mutation and pleuroparenchymal fibroelastosis http://ow.ly/u33930aARaL