Liver-associated findings and outcomes in a telomere biology disorders clinic.
Liver involvement found in 60% of patients with telomere biology disorders.
Liver-associated findings and outcomes in a telomere biology disorders clinic.
Telomeres are repetitive sequences at the end of linear chromosomes that preserve genetic information.
Here, we describe the hepatic manifestations of patients with telomere biology disorders at a large tertiary center within a specialized telomere biology disorders clinic; 121 consecutive patients with telomere biology disorders seen from 2017 to 2024 were included.
Hepatic steatosis was the most prevalent imaging finding (56%), while a cholestatic pattern of liver injury was the predominant laboratory abnormality (73%).
Findings of portal hypertension were observed in 25 patients (34%), with decompensation observed in 12 patients (16%).
Traditional liver imaging modalities (computer tomography, ultrasound, and MRI) were compared with magnetic resonance elastography in 41 patients.
Of these, 7 patients had abnormal magnetic resonance elastography with normal traditional imaging (17%), indicating higher sensitivity of magnetic resonance elastography to detect liver involvement.
This study describes the liver manifestations within a cohort of patients with telomere biology disorders with findings of portosinusoidal vascular disorder and hepatopulmonary syndrome similar to other cohorts and a noted higher prevalence of hepatic steatosis as compared with the general population.
Liver stiffness measurements, integrated with imaging and laboratory testing, further improve characterization of hepatic manifestations in telomere biology disorders.