Title

Dyspnoea with progressive "idiopathic" pulmonary fibrosis

Document Type

Article

Publication Title

Respirology Case Reports

Abstract

Telomeres are repetitive nucleotide sequences that prevent chromosomal shortening in cell replication. Short telomeres have been implicated in the pathogenesis of interstitial lung disease. Patients with short telomere related pulmonary fibrosis can have computed tomography (CT) findings inconsistent with pro-typical usual interstitial pneumonia/idiopathic pulmonary fibrosis (UIP/IPF) pattern. They can have rapid progression and overall worse prognosis. Antifibrotic drugs, like pirfenidone, can be used to slow the progression of disease, but there is conflicting data in patients with Telomerase reverse transcriptase/Telomerase RNA component (TERT/TERC) mutations, hence genetic testing plays an important role in determining the therapeutic options. These patients should be referred for lung transplantation early. We present a case of rapidly progressive pulmonary fibrosis associated with short telomere.

DOI

https://doi.org/10.1002/rcr2.800

Publication Date

Summer 6-6-2021

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