death of our patient ’ s first cousin who died post-transplantation .
Additionally , the length of telomeres should be assessed , as shortened telomeres underlie the pathogenesis of FPF and are inversely correlated with survival in lung transplant recipients . 14 Shortened telomere length is a known risk factor for fibrotic pulmonary diseases , collectively referred to as short telomere syndromes . Although there are no formal guidelines recommending genetic testing in cases of FPF , testing should be considered once three family members are diagnosed with fibrotic lung disease of unknown origin . This suggestion is prompted by the severity of complications and the risk for genetic anticipation . However , the cost of genetic testing may not be covered by insurance due to a lack of evidence supporting genetic testing for FPF . Thus , future studies should investigate the cost-to-benefit analysis of genetic testing for FPF to better inform clinical-decision making .
The identification of an individual ’ s telomerase mutations may help guide future treatment options and allow for better outcomes as we can potentially target these mutations and evaluate how they alter the patient ’ s pulmonary phenotype . In addition , targeted therapy may decrease the need for lung transplantation , which has a poor prognosis . 14 Given the genetic basis of FPF , future treatment approaches should focus on the discovery of biomarkers specific to FPF . These biomarkers could serve as targets for the development of therapies aimed at genes that influence telomerase function , thus paving the way for more tailored and effective treatment modalities .
CONCLUSION
FPF is a hereditary fibrotic lung disease of unknown etiology . It should be considered when patients exhibit restrictive lung disease on pulmonary function testing and features of fibrosis on HRCT of the chest . FPF should especially be considered when this presentation occurs in multiple members of the same family without a known trigger . The treatment of FPF includes anti-fibrotic medications , oxygen therapy , and early referral for lung transplantation . As our understanding of the pathogenesis of FPF progresses , genetic testing becomes progressively crucial , especially for identifying potential therapeutic targets , such as genes within the telomerase complex . Overall , FPF highlights the significant role of mutations affecting the telomere complex and alveolar barrier dysfunction in the development of pulmonary fibrosis .
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