Telomeropathies as a multidisciplinary problem

Telomeropathies are a phenotypically heterogeneous group of diseases characterized by defects in telomeres resulting from germline mutations in key genes responsible for maintaining telomere length. The main manifestations of telomeropathy are bone marrow failure, immunodeficiency, progressive dysfunction of various organs and a high risk of cancer. New specific research methods, such as next-generation sequencing, significantly increased the frequency of verification of these diseases. The treatment approaches for these patients differ from standard protocols for clinically similar diseases. Therapeutic options for telomeropathies are very limited, but early diagnosis allows to refuse ineffective treatment methods and show an alertness for these diseases in relatives of patients.