Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia and Cirrhosis Requiring Liver Transplantation

Taha Fadlou Allah; Marc Kesselman; Sahar Amini; Sonia Daryanani; Anjali Bhasin

doi:10.7759/cureus.116042

Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia and Cirrhosis Requiring Liver Transplantation

Taha Fadlou Allah
, Marc Kesselman
, Sahar Amini
, Sonia Daryanani
, Anjali Bhasin

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	e116042
Journal	Cureus
Volume	18
Issue number	9
DOIs	https://doi.org/10.7759/cureus.116042
State	Published - Sep 10 2026

Funding

Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.

ASJC Scopus Subject Areas

Hematology
Genetics
Gastroenterology

Keywords

cirrhosis
danazol
liver transplantation
pancytopenia
telomere biology disorder
tert mutation

Disciplines

Hematology
Genetics
Gastroenterology

Access to Document

10.7759/cureus.116042

https://www.cureus.com/articles/462353-telomerase-reverse-transcriptase-tert-mutation-at-a-price-telomere-biology-disorder-presenting-with-pancytopenia-and-cirrhosis-requiring-liver-transplantation.pdfLicense: CC BY

Cite this

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title = "Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia and Cirrhosis Requiring Liver Transplantation",

abstract = "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.",

keywords = "cirrhosis, danazol, liver transplantation, pancytopenia, telomere biology disorder, tert mutation",

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month = sep,

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doi = "10.7759/cureus.116042",

language = "English",

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T1 - Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia and Cirrhosis Requiring Liver Transplantation

AU - Allah, Taha Fadlou

AU - Kesselman, Marc

AU - Amini, Sahar

AU - Daryanani, Sonia

AU - Bhasin, Anjali

PY - 2026/9/10

Y1 - 2026/9/10

N2 - 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.

AB - 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.

KW - cirrhosis

KW - danazol

KW - liver transplantation

KW - pancytopenia

KW - telomere biology disorder

KW - tert mutation

U2 - 10.7759/cureus.116042

DO - 10.7759/cureus.116042

M3 - Article

C2 - 42725010

SN - 2168-8184

VL - 18

JO - Cureus

JF - Cureus

IS - 9

M1 - e116042

ER -

Telomerase Reverse Transcriptase (TERT) Mutation at a Price: Telomere Biology Disorder Presenting With Pancytopenia and Cirrhosis Requiring Liver Transplantation

Abstract

Funding

ASJC Scopus Subject Areas

Keywords

Disciplines

Access to Document

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