Liver Transplantation for Decompensated Cirrhosis Secondary to Telomerase Reverse Transcriptase (TERT) Mutation

Telomeres are DNA sequences on chromosome tips that protect against shortening during mitosis and are repaired by the enzyme telomerase. Mutations in the telomerase complex result in premature cellular senescence and can cause bone marrow failure, pulmonary fibrosis, and liver disease. Liver disease is associated with telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC) mutations, typically presenting with nodular regenerative hyperplasia, though cirrhosis has been described.(1) Herein, we report a successful liver transplant (LT) for acute on chronic liver failure from telomere disease.