[(Pan-)cytopenia as first manifestation of kryptic telomeropathies in adults]

Telomere syndromes (syn. Telomeropathies) are inherited disorders hallmarked by accelerated telomere shortening based on a molecular defect within the telomerase/telomere complex. The rare, but well-defined model disorder Dyskeratosis congenita (DKC) characterized by typical skin manifestations and bone marrow failure represents the classical manifestation of telomere syndromes in childhood and adolescence. However, cryptic variants of DKC, clinically manifest through appearance of atypical bone marrow failure, lung fibrosis or liver cirrhosis - especially in adults up to the fifth decade of age - are frequently underdiagnosed. Clinical awareness is of utmost importance for this group of patients considering the fundamental implications of this diagnosis for treatment decisions and surveillance. Here, we review the importance of screening, correct diagnosis and therapeutic implications of telomeropathies in adult patients with mostly cryptic DKC with particular focus on (pan-)cytopenia as first and most frequent clinical manifestation.