CureusSep 11, 2026

Telomerase Mutation Linked to Blood Cell Loss and Liver Damage Needing Transplant

Longevity & Aging Weekly Brief ↗PubMed ↗DOI ↗

Updated Sep 12, 2026

Abstract

A 45-year-old man with markedly short telomeres and a heterozygous TERT variant exhibited macrocytic pancytopenia and liver disease.

Telomere biology disorders can manifest in adulthood with symptoms like pancytopenia and liver disease.
The patient responded to danazol treatment for hematologic issues but developed progressive liver cirrhosis.
Orthotopic liver transplantation corrected liver failure but did not resolve the underlying bone marrow disorder.
Cytopenias reappeared after transplantation while on tacrolimus-based immunosuppression.

Simplified

Telomere biology disorders (TBDs) are inherited conditions that can present in adulthood with pancytopenia and liver disease. We describe a case of a 45-year-old man with a high body mass index (BMI), long-standing macrocytic pancytopenia, and biopsy-proven steatohepatitis who was found to have markedly short telomeres and a heterozygous telomerase reverse transcriptase (TERT)variant. The patient had a clear hematologic response to danazol but developed progressive cirrhosis with portal hypertension, ultimately requiring orthotopic liver transplantation with sleeve gastrectomy; after transplant, liver chemistries normalized, but cytopenias recurred under tacrolimus-based immunosuppression. This case highlights the need to consider TBDs in adults with unexplained macrocytic cytopenias and progressive liver disease, and to recognize that liver transplantation corrects hepatic failure but not the underlying bone marrow disorder.

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Telomerase Mutation Linked to Blood Cell Loss and Liver Damage Needing Transplant

Abstract

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