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Related Experiment Videos

Hereditary hemorrhagic telangiectasia.

Ya-Fen Peng1, Liang-Kung Chen, Yi-Hong Chou

  • 1Department of Family Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.

Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed
|March 15, 2003
PubMed
Summary

Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, is a rare vascular disorder. This case highlights HHT with liver involvement, diagnosed via epistaxis, telangiectasis, and hepatic arteriovenous malformation.

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Area of Science:

  • Vascular Medicine
  • Genetics
  • Gastroenterology

Background:

  • Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare genetic disorder.
  • It is characterized by arteriovenous malformations (AVMs) in various organs.
  • Liver involvement in HHT ranges from 8-31%.

Observation:

  • A 75-year-old male presented with recurrent epistaxis and mucosal telangiectasis on the lower lip.
  • Diagnostic imaging revealed a hepatic arteriovenous malformation.
  • These findings led to the diagnosis of HHT with liver involvement.

Findings:

  • The patient met diagnostic criteria for HHT, including recurrent epistaxis and mucocutaneous telangiectasis.
  • Confirmed hepatic AVM indicated significant visceral vascular lesion.

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  • The case underscores the importance of considering liver AVMs in HHT patients.

    • Implications:

    • This case contributes to understanding the clinical presentation of HHT with liver involvement.
    • Early diagnosis and management of hepatic AVMs in HHT are crucial for patient outcomes.
    • Further research into the prevalence and management of visceral AVMs in HHT is warranted.