Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

Dig Dis Sci. 2017 Oct;62(10):2623-2630. doi: 10.1007/s10620-017-4719-3. Epub 2017 Aug 23.


Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

Keywords: Arteriovenous malformation; Hereditary hemorrhagic telangiectasia (HHT); Juvenile polyposis syndrome; Osler–Weber–Rendu syndrome.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Animals
  • Biopsy
  • Endoscopy, Gastrointestinal
  • Gastrointestinal Diseases / diagnosis*
  • Gastrointestinal Diseases / epidemiology
  • Gastrointestinal Diseases / genetics
  • Gastrointestinal Diseases / therapy
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Diagnostic Techniques
  • Phenotype
  • Physical Examination
  • Predictive Value of Tests
  • Prevalence
  • Prognosis
  • Risk Factors
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis*
  • Telangiectasia, Hereditary Hemorrhagic / epidemiology
  • Telangiectasia, Hereditary Hemorrhagic / genetics
  • Telangiectasia, Hereditary Hemorrhagic / therapy
  • Tomography, X-Ray Computed