SHM Converge Scientific Abstract ePoster Gallery-A Young Patient With Pancytopenia and Cirrhosis: Unraveling a Telomeropathy

Pdf Summary

This case describes a 24-year-old previously healthy man who developed a progressive, multisystem illness ultimately diagnosed as a telomeropathy.<br /><br />He first presented in early 2022 with mild intermittent abdominal pain. By January 2023, he developed gingival bleeding, diffuse petechiae, ecchymoses, and pancytopenia, raising concern for idiopathic bone marrow failure after other causes such as malignancy, infection, autoimmune disease, toxins, and medications were considered. One month later, he returned with severe abdominal pain and was found to have ascites. Further evaluation raised concern for Budd-Chiari syndrome and cirrhosis, and liver biopsy showed venous outflow impairment with elevated pressures. Viral, autoimmune, genetic, toxic, and metabolic liver causes were considered. Over the following months, he had recurrent refractory ascites and cytopenias requiring frequent paracenteses and transfusions, ultimately necessitating a TIPS procedure.<br /><br />Despite numerous healthcare encounters, the underlying diagnosis was not made until September 2024, about 20 months after his initial admission, when genetic testing revealed shortened telomeres in multiple cell lines along with mutations in the PARN and TERT genes, confirming a telomeropathy.<br /><br />The discussion emphasizes that telomeropathies are rare disorders of telomere maintenance with broad clinical variability, often involving multiple organs, premature aging, bone marrow failure, and liver disease. Diagnosis is challenging and requires a high index of suspicion, exclusion of more common etiologies, and confirmation with specialized testing such as genetic analysis and flow cytometry. Treatment is largely supportive, with increased surveillance and organ transplantation when appropriate.

Asset Subtitle

Lucy Z. Shi

Meta Tag

Author List Jacob R. Lipovac, Lucy Z. Shi

Category Clinical Vignettes

Concept Telomeropathy

Concept Bone marrow failure

Concept Pancytopenia

Concept Liver Disease

Concept Telomere length testing

Distinguished Non-Finalist

Presenter Organization UC Davis School of Medicine

Presenting Author Lucy Z. Shi

Track Adult

Keywords

telomeropathy

shortened telomeres

PARN mutation

TERT mutation

bone marrow failure

pancytopenia

Budd-Chiari syndrome

cirrhosis

refractory ascites

genetic testing

Telomeropathy

Bone marrow failure

Pancytopenia

Liver Disease

Telomere length testing