Pulmonary Fibrosis

Pulmonary Fibrosis (PF) is a chronic progressive form of lung disease in which there is permanent scarring of the lung tissue. Idiopathic pulmonary fibrosis (IPF) refers to cases when there is no known cause of the condition. It is most likely caused by an interaction of both genetic and environmental factors.

IPF is a rare disease affecting approximately 5 million people worldwide. It is the most common disease indication for lung transplantation, and without a transplant the disease has a poor prognosis.

There are cases where PF runs in families, this is known as familial pulmonary fibrosis (FPF).

Pulmonary fibrosis (PF) has been linked to abnormal telomere maintenance. Studies have found that Very Low (VL) leukocyte telomere length is independently associated with worse survival for PF patients. 

Why Test for Telomere Length 

Pulmonary fibrosis has been linked to genetic or acquired defects causing abnormal telomere maintenance for a subset of patients. Flow FISH measurements have been shown to be a valuable test to guide genetic investigations and treatment in patients diagnosed with pulmonary fibrosis.

Reasons for testing telomere length include:

  • Diagnostic tool for individuals with familial and idiopathic PF.
  • Telomere length is associated with transplant free survival and can aid in disease course prediction and treatment planning.
  • Risk assessment for lung transplantation as well as post-transplant immunosuppression guidance.
  • In high risk patients, who may be unable to undergo lung biopsies, telomere length analysis can provide critical information.
  • Cost of a Flow FISH telomere test is less than genetic testing and has a faster turnaround time.

CLINICAL STUDY REPORTS

Newton C, A., Oldham J,M., Ley B. et al. Telomere length and genetic variant associations with interstitial lung disease progression and survival. Eur Respir J. 2019 Apr 11;53(4). pii: 1801641. doi: 10.1183/13993003.01641-2018. 

Courtwright A,M. and  El-Chemaly S. Telomeres in Interstitial Lung Disease: The Short and the Long of It. Ann Am Thorac Soc. 2019 Feb;16(2):175-181. doi: 10.1513/AnnalsATS.201808-508CME. 

Adegunsoye A., Vij R. and Noth I. Integrating Genomics Into Management of Fibrotic Interstitial Lung Disease. Chest. 2019 May;155(5):1026-1040. doi: 10.1016/j.chest.2018.12.011.

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