TY - JOUR
T1 - Extrahematopoietic manifestations of the short telomere syndromes
AU - Schratz, Kristen E.
N1 - Funding Information:
The author is grateful to Mary Armanios for helpful discussions and comments on the manuscript and figures. The author thanks all the patients, families, and their referring physicians who have contributed to the Johns Hopkins Telomere Syndromes study. This work was supported by a grant from the National Institutes of Health, National Heart, Lung, and Blood Institute (T32HL007525), the Turock Scholars Fund to the Johns Hopkins Telomere Center, and the MacMillan Pathway to Independence Award at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins.
Publisher Copyright:
© 2020 by The American Society of Hematology
PY - 2020/12
Y1 - 2020/12
N2 - The short telomere syndromes encompass a spectrum of clinical manifestations that present from infancy to late adulthood. They are caused by mutations in telomerase and other telomere maintenance genes and have a predominantly degenerative phenotype characterized by organ failure across multiple systems. They are collectively one of the most common inherited bone marrow failure syndromes; however, their most prevalent presentations are extrahematopoietic. This review focuses on these common nonhematologic complications, including pulmonary fibrosis, liver pathology, and immunodeficiency. The short telomere syndrome diagnosis informs clinical care, especially in guiding diagnostic evaluations as well as in the solid organ transplant setting. Early recognition allows an individualized approach to screening and management. This review illustrates a myriad of extrahematopoietic presentations of short telomere syndromes and how they impact clinical decisions.
AB - The short telomere syndromes encompass a spectrum of clinical manifestations that present from infancy to late adulthood. They are caused by mutations in telomerase and other telomere maintenance genes and have a predominantly degenerative phenotype characterized by organ failure across multiple systems. They are collectively one of the most common inherited bone marrow failure syndromes; however, their most prevalent presentations are extrahematopoietic. This review focuses on these common nonhematologic complications, including pulmonary fibrosis, liver pathology, and immunodeficiency. The short telomere syndrome diagnosis informs clinical care, especially in guiding diagnostic evaluations as well as in the solid organ transplant setting. Early recognition allows an individualized approach to screening and management. This review illustrates a myriad of extrahematopoietic presentations of short telomere syndromes and how they impact clinical decisions.
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U2 - 10.1182/HEMATOLOGY.2020000170
DO - 10.1182/HEMATOLOGY.2020000170
M3 - Article
C2 - 33275732
AN - SCOPUS:85097310489
SN - 1520-4391
VL - 20
SP - 115
EP - 122
JO - Hematology (United States)
JF - Hematology (United States)
IS - 1
ER -