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Minerva Medica 2016 February;107(1 Suppl 1):9-14


language: English

Telomeropathies: an emerging spectrum of disorders with important implications for patients with interstitial lung disease

Giulia M. STELLA 1, Elisabetta BALESTRO 2, Donato LACEDONIA 3, Simonetta BARALDO 4

1 Laboratory of Biochemistry and Genetics, Pulmonology Unit, Department of Molecular Medicine, San Matteo Polyclinic and Institute for Scientific Research, Pavia, Italy; 2 Pulmonology Unit, Department of Respiratory Medicine, University of Padua, Padua, Italy; 3 Unit of Respiratory System Diseases, Department of Surgical Sciences, University of Foggia, Foggia, Italy; 4 Department of Cardiothoracic and Vascular Surgery, Respiratory Diseases Clinic, University of Padua, Padua, Italy


Growing evidence demonstrates that a number of clinical disorders may be related to genetic defects in telomere replication and extension. Overall, these syndromes are referred to as “telomeropathies” or “telomere disorders/syndromes”; they are increasingly being identified. In adulthood, idiopathic pulmonary fibrosis (IPF) is the most common symptom of telomeropathy. IPF is a progressive and fatal disease characterized by scarring of the lungs that thickens the interstitium ultimately leading to irreversible respiratory failure. Starting from this basis, the present review analyzes and discusses the findings of a relevant paper by Gautam George and colleagues from the Division of Pulmonary and Critical Care Medicine at Brigham and Women’s Hospital and Harvard Medical School in Boston, MA, recently appeared on the prestigious journal CHEST. In a cohort of patients addressed to lung transplantation, authors were able to demonstrate that subclinical bone marrow and liver abnormalities can be seen in patients with interstitial lung disease (ILD) and short telomeres, in some cases in the absence of clinically significant abnormalities in peripheral blood count and liver function tests. This observation sustains the rationale for further studies aimed to validate telomere length testing as a useful parameter as part of the evaluation for transplant candidacy. A deeper clarification of the complex link between IPF and short telomeres and telomeropathies is required for a new ILD classification, aimed to a fully personalized approach to the disease.

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