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Digestive Diseases and Sciences

, Volume 62, Issue 10, pp 2623–2630 | Cite as

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

  • Samuel B. Jackson
  • Nicholas P. Villano
  • Jihane N. Benhammou
  • Michael Lewis
  • Joseph R. Pisegna
  • David PaduaEmail author
Mentored Review

Abstract

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

Hereditary hemorrhagic telangiectasia (HHT) Osler–Weber–Rendu syndrome Arteriovenous malformation Juvenile polyposis syndrome 

Abbreviations

HHT

Hereditary hemorrhagic telangiectasia

AVM

Arteriovenous malformation

JPHT

Juvenile polyposis/hereditary hemorrhagic telangiectasia

GI

Gastrointestinal

VCE

Video capsule endoscopy

EGD

Esophagogastroduodenoscopy

Notes

Acknowledgments

This work received grant support from: NIH Training Grant NIDDK T32 DK07180-30 (JNB); Department of Veterans Affairs RR&D Merit Review (JRP) I01 RX000194; Human Studies CORE through CURE: Digestive Diseases Research Center supported by NIH grant P30DK41301.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethics statement

The authors certify that this manuscript is an original work and is not published or submitted for publication elsewhere. We have no related material submitted elsewhere and will not submit this manuscript or part of this manuscript to other publishers. We certify that each author has participated substantially in the work to create and revise this manuscript. We have no financial disclosures or conflicts of interest to declare.

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Copyright information

© Springer Science+Business Media, LLC (Outside the USA) 2017

Authors and Affiliations

  1. 1.Division of Digestive DiseasesDavid Geffen School of Medicine at UCLALos AngelesUSA
  2. 2.Department of MedicineDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of Pathology and Laboratory Medicine, Department of Human GeneticsDavid Geffen School of Medicine at UCLALos AngelesUSA
  4. 4.Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans AffairsVA Greater Los Angeles Healthcare System (691/111C)Los AngelesUSA

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