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A study addressing the complexities of diagnosing telomere biology disorders (TBD) in adults with interstitial lung disease (ILD) post-lung transplantation introduced a TBD screening questionnaire during evaluations, resulting in a diagnostic yield of 25%.

The following is a summary of “Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease,” published in the DECEMBER 2023 issue of Pulmonology by Banaszak, et al.

For a study, researchers sought to address the complexities of diagnosing telomere biology disorders (TBD) in adults, particularly focusing on cases of interstitial lung disease (ILD) secondary to TBD, which results in heightened morbidity post-lung transplantation. To overcome the challenges associated with TBD diagnosis in this context, the researchers introduced a TBD screening questionnaire during lung transplant evaluations. The primary goal was identifying individuals with TBD, enabling personalized management for improved post-transplant outcomes.

Incorporating a TBD screening questionnaire into the lung transplant evaluation process, the study enrolled 98 ILD patients. Those who screened positive underwent further assessment involving comprehensive TBD phenotyping. This included concurrent measurements of telomere length and germline genetic testing.

Of the 98 patients, 33% (32) screened positive through the TBD questionnaire. Among the positive cases, 8% (8 patients) met strict TBD diagnostic criteria. These criteria involved having critically short lymphocyte telomeres (<1st percentile) (n = 4), a pathogenic variant in a TBD-associated gene (n = 1), or a combination of both (n = 3). Patients who did not meet these strict criteria also presented with TBD-consistent histories. They exhibited telomere lengths falling below the 10th percentile and/or rare variants in TBD-associated genes.

Implementing a TBD screening questionnaire during lung transplant evaluations for ILD patients demonstrated a diagnostic yield of 25%. Recognizing the challenges inherent in TBD diagnosis for this specific patient population, the study underscores the ongoing need for refining diagnostic criteria. The refinement involves gene discovery and functional testing of rare variants, contributing to the maximization of benefits from TBD testing in the context of lung transplantation.

Source: resmedjournal.com/article/S0954-6111(23)00352-9/fulltext