The Spectrum of Hepatic Involvement in Patients With Telomere Disease

Hepatology : Official Journal of the American Association for the Study of Liver Diseases
Devika KapuriaTheo Heller

Abstract

Loss-of-function mutations in genes that encode for components of the telomere repair complex cause accelerated telomere shortening. Hepatic involvement has been recognized as a cause of morbidity in telomere diseases, but very few studies have characterized the nature and extent of liver involvement in affected patients. We report the prevalence and characteristics of liver involvement in a large cohort of patients with telomere disease evaluated serially at the National Institutes of Health. One hundred twenty-one patients with known or suspected telomere disease were screened; 40 patients with liver involvement were included in the current study. Median follow-up was 2.4 years. Data were collected regarding their demographic information, laboratory analysis, imaging, and histopathology. Forty patients (40% of the cohort) with a median age of 42 years were found to have liver involvement. Liver enzyme elevation was cholestatic in pattern; 8 (21%) had drug-related enzyme elevations. The most common imaging finding was increased hepatic echogenicity on ultrasound in 39% (9) of patients, followed by hepatomegaly in 26% (6). Biopsies were infrequent because of risk associated with thrombocytopenia, but in 6 patients, there were v...Continue Reading

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Citations

Sep 4, 2019·Expert Review of Hematology·Marena R Niewisch, Sharon A Savage
Jan 17, 2020·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Jennifer M KolbMichael Kriss
Jun 10, 2020·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Michael MunroeLuis Francisco Zirnberger Batista
Mar 13, 2021·Expert Review of Gastroenterology & Hepatology·Liang-Jie TangMing-Hua Zheng
Jun 11, 2021·Molecular Genetics & Genomic Medicine·Tanvi AcharyaAlasdair P J Parker
Jul 31, 2021·Histopathology·Baris BoyrazJoseph Misdraji
Feb 27, 2021·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Sarah RaevensHans Van Vlierberghe
Sep 25, 2021·Hepatology Communications·Puru RattanDouglas A Simonetto

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