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Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations

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Abstract

Purpose of Review

Telomere biology disorders (TBD) encompass several illnesses caused by underlying mutations in telomere maintenance leading to premature telomere attrition and telomere dysfunction. These disorders have unique features but share common disease manifestations including pulmonary fibrosis, cirrhosis, and bone marrow failure. The goals of this article are to provide an overview of the gastrointestinal and hepatic manifestations of TBD, focusing on their pathophysiology, clinical disease states, and current management strategies.

Recent Findings

Telomere shortening has been observed in patients with chronic liver disease and is associated with a higher risk of progression to cirrhosis and portal hypertension. While the directionality of the association between telomere dysfunction and senescence on liver disease is not fully understood, research in TBD may provide clarity and could lead to future therapies for this increasingly prevalent disease. While treatment options remain limited in TBD-associated liver disease, recent studies point to the safety and efficacy of liver transplantation among patients with end-stage liver disease.

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Data Availability

Not applicable.

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Author information

Authors and Affiliations

  1. Internal Medicine Residency, Department of Medicine, Mayo Clinic, Rochester, MN, USA

    Fatima Warsame

  2. Gastroenterology and Hepatology Fellowship Program, Division of Gastroenterology and Hepatology, Mayo Clinic, 200 1St SW, Rochester, MN, USA

    Douglas A. Simonetto

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  1. Fatima Warsame
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  2. Douglas A. Simonetto
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Contributions

F.W. and D.S. wrote the main manuscript text and prepared Fig. 1. All authors reviewed the manuscript.

Corresponding author

Correspondence to Douglas A. Simonetto.

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Warsame, F., Simonetto, D.A. Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations. Curr Hematol Malig Rep 19, 75–81 (2024). https://doi.org/10.1007/s11899-023-00723-6

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