Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Oct;62(10):2623-2630.
doi: 10.1007/s10620-017-4719-3. Epub 2017 Aug 23.

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

Samuel B Jackson  1   2   3 , Nicholas P Villano  1   2   3 , Jihane N Benhammou  1   2   3 , Michael Lewis  4 , Joseph R Pisegna  1   2   3 , David Padua  5   6   7
Affiliations

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

Samuel B Jackson et al. Dig Dis Sci. 2017 Oct.

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

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Transverse colon polyp biopsy with H&E stain (magnification ×50) showing abnormal vascular formations throughout the mucosa (a) and submucosa (b) consistent with HHT. Arrows point to the areas of vascular dilation
Fig. 2
Fig. 2
CT image of the abdomen demonstrating focal nodular hyperplasia of the left lobe of the liver and early cirrhosis in a patient with genetically confirmed HHT
Fig. 3
Fig. 3
Endoscopic images of the gastric body and antrum in a patient with genetically confirmed HHT demonstrating multiple telangiectasias predominantly in the distal body and antrum
See this image and copyright information in PMC

References

    1. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918–924. - PubMed
    1. Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. 2002;19:140–148. - PubMed
    1. Grosse SD, Boulet SL, Grant AM, Hulihan MM, Faughnan ME. The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia. Genet Med. 2014;16:33–39. - PMC - PubMed
    1. Westermann CJ, Rosina AF, De vries V, De coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet A. 2003;116A(4):324–328. - PubMed
    1. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17:860–871. - PMC - PubMed

Publication types

MeSH terms