{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:29:14Z","timestamp":1790418554856,"version":"4.1.0"},"reference-count":31,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","license":[{"start":{"date-parts":[[2019,4,10]],"date-time":"2019-04-10T00:00:00Z","timestamp":1554854400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Hepatology"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    Loss\u2010of\u2010function 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\u2010one patients with known or suspected telomere disease were screened; 40 patients with liver involvement were included in the current study. Median follow\u2010up 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\u2010related 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 varying findings: nodular regenerative hyperplasia, steatohepatitis, hemosiderosis, cholestasis, and cirrhosis with hepatic steatosis. Almost half the cohort had pulmonary diffusion abnormalities, and 25% died during the follow\u2010up period.\n                    <jats:italic toggle=\"yes\">Conclusion:<\/jats:italic>\n                    In patients with telomere disease, hepatic involvement is common and can present in diverse ways, including elevated liver enzymes as well as histopathologic and imaging abnormalities. Liver disease has important implications for morbidity and mortality in patients with telomere disease.\n                  <\/jats:p>","DOI":"10.1002\/hep.30578","type":"journal-article","created":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T13:53:18Z","timestamp":1550757198000},"page":"2579-2585","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":63,"title":["The Spectrum of Hepatic Involvement in Patients With Telomere Disease"],"prefix":"10.1097","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9565-9868","authenticated-orcid":false,"given":"Devika","family":"Kapuria","sequence":"first","affiliation":[{"name":"Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases,National Institutes of 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Center,Washington,DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Or","family":"Kalchiem\u2010Dekel","sequence":"additional","affiliation":[{"name":"Pulmonary Branch, National Heart, Lung, and Blood Institute,National Institutes of Health,Bethesda,MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varun","family":"Takyar","sequence":"additional","affiliation":[{"name":"Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases,National Institutes of Health,Bethesda,MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shilpa","family":"Lingala","sequence":"additional","affiliation":[{"name":"Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases,National Institutes of Health,Bethesda,MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveen","family":"Gara","sequence":"additional","affiliation":[{"name":"Liver Diseases Branch, National Institute of Diabetes 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