Diagnosis and management of adult telomere biology disorders

Abstract

Telomere biology disorders (TBDs) comprise a heterogenous group of inherited conditions characterized by impaired telomere maintenance, resulting in abnormal telomere lengths and/or telomere dysfunction. The clinical spectrum of TBDs is broad, spanning bone marrow failure, pulmonary fibrosis, liver disease, and an increased predisposition to malignancy, complicating timely diagnosis and management. In this review, we explore the evolving clinical landscape and diagnostic strategies for TBDs, while highlighting the diverse phenotypic presentations. We further examine the role of telomere dysfunction in driving cancer development and clonal hematopoiesis. Finally, we discuss current and emerging therapeutic approaches for TBDs, emphasizing the need for individualized and multidisciplinary management to optimize patient outcomes.