Sep 4, 2019

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders

Expert Review of Hematology
Marena R Niewisch, Sharon A Savage

Abstract

Introduction: Telomere biology disorders (TBDs) encompass a group of illnesses caused by germline mutations in genes regulating telomere maintenance, resulting in very short telomeres. Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraal-Hreidarsson syndrome, Revesz syndrome and Coats plus to adults presenting with one or two DC-related features.Areas covered: The discovery of multiple genetic causes and inheritance patterns has led to the recognition of a spectrum of clinical features affecting multiple organ systems. Patients with DC and associated TBDs are at high risk of bone marrow failure, cancer, liver and pulmonary disease. Recently, vascular diseases, including pulmonary arteriovenous malformations and gastrointestinal telangiectasias, have been recognized as additional manifestations. Diagnostics include detection of very short leukocyte telomeres and germline genetic testing. Hematopoietic cell transplantation and lung transplantation are the only current therapeutic modalities but are complicated by numerous comorbidities. This review summarizes the pathophysiology underlying TBDs, associated clinical features, management recommend...Continue Reading

Mentioned in this Paper

Patterns
Gastrointestinal Telangiectasia
Germ-Line Mutation
Genes
Multisystem Disorder
Genetic Screening Method
Bone Marrow
Molecular_function
HOYERAAL-HREIDARSSON Syndrome
Tintinnophagus

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