Shall we call them “telomere-mediated”? Renaming the idiopathic after the cause is found

Editorial Interstitial Lung Disease by Samantha J. Merck and Mary Armanios

October 28, 2016.

Over the past decade, it has become evident that abnormally short telomeres are a causal risk factor for pulmonary fibrosis in a large subset of patients. Mutations in the genes that code for the telomerase enzyme essential components are the most common cause of familial pulmonary fibrosis.The progressive shortening of telomeres across generations underlies this earlier onset of disease. Recognising this subset of patients is increasingly recognised to have implications for patient care. One of the most important examples is in the lung transplantation setting, where recognising patients with telomere-mediated lung disease is critical because it predicts potentially avoidable complications related to myelosuppression, infection and renal failure. Telomere length measurement, by the clinically validated Flow FISH procedure is performed by Repeat Diagnostics.

The full text of this editorial can be found at European Respiratory Journal 2016 48: 1556-1558