Large Cell Change in a Small Liver: A Histological Clue to Short Telomere Syndromes?

Abstract

Telomeres are DNA‐protein complexes at the ends of chromosomes essential for maintaining genetic stability. Defects in genes coding telomere maintenance proteins rarely occur, resulting in accelerated telomere shortening. Termed short telomere syndromes (STSs), these conditions have diverse clinical manifestations, including premature hair greying, bone marrow failure, pulmonary fibrosis, early‐onset malignancy, and cirrhosis. However, liver histopathologic changes have not been thoroughly described in STS patients. Here, we report a case of a patient with clinically‐suspected cirrhosis and striking hepatocyte large cell change (LCC) on liver biopsy who was found to have an underlying STS