UK review outlines non-standard care needs for telomere biology disorder patients

Telomere biology disorders (TBDs) and short telomere syndromes are difficult to diagnose, requiring a combination of clinical acumen, gene variant analysis and ideally, telomere length. Severe phenotypes include the ultra-rare dyskeratosis congenita and related early-onset syndromes. More commonly, TBDs can present in adulthood with single- or multi-system fibrotic disease, apoptotic bone marrow failure or malignancy. In the general population, shorter telomere lengths are associated with chronic inflammation, fibrotic disorders, cardiovascular disease, malignancy and disorders of ageing. Diagnosis and expert multisystem care are important; TBD-related conditions require non-standard treatments, minimising immunosuppression and potentially profibrotic treatments. All too aware of the challenges TBD patients face and the urgent need for coordinated care, the patients group DC Action brought together patients, medical professionals and scientists: the “TeloNet” alliance, to share best practice and develop diagnostic and management pathways. This mini review describes the first TeloNet meeting, summarising current United Kingdom (UK) practice, in the context of global provision, drawing attention to challenges and improvements required for timely diagnosis, coordinated monitoring and care for people living with TBDs. TeloNet is UK-focussed but the challenges described have relevance across disparate nations and healthcare systems. Those with an interest in TBDs are invited to join TeloNet by contacting [email protected].