The Spectrum of Hepatic Involvement in Patients with Telomere Disease

Abstract

Background

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.

Methods

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.

Results

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) patients, followed by hepatomegaly in 26% (6) subjects.

Biopsies were infrequent due to risk associated with thrombocytopenia, but in six 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 up period.

Conclusion

In patients with telomere disease, hepatic involvement is common and can present in diverse ways, including elevated liver enzymes, histopathologic as well as imaging abnormalities. Liver disease has important implications for morbidity and mortality in patients with telomere disease.

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