Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia...

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.