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Area of Science:

  • Genetics
  • Molecular Biology
  • Hepatology

Background:

  • Telomeres protect chromosome ends, maintaining genome stability.
  • Telomere biology disorders (TBDs) involve accelerated telomere shortening.
  • Liver involvement in TBDs is often overlooked.

Purpose of the Study:

  • To review liver manifestations in TBDs.
  • To highlight diagnostic challenges.
  • To discuss therapeutic hurdles in TBD-related liver disease.

Main Methods:

  • Literature review of TBDs and hepatic involvement.
  • Analysis of clinical presentations and outcomes.
  • Synthesis of current knowledge on diagnosis and treatment.

Main Results:

  • TBDs can cause diverse liver issues, from mild abnormalities to severe conditions like cirrhosis.
  • Hepatic manifestations include steatohepatitis and portal hypertension.
  • Liver disease in TBDs often requires liver transplantation.

Conclusions:

  • Liver involvement in TBDs is a significant clinical concern.
  • Improved diagnostic strategies are needed for TBD-related liver disease.
  • Further research is required to address therapeutic challenges.