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Rendu-Osler-Weber disease: a gastroenterologist's perspective
Annalisa Tortora1,2, Maria Elena Riccioni3,4, Eleonora Gaetani3,4
1Fondazione Policlinico Universitario A Gemelli IRCCS, Roma, Italy. annalisa.tortora@guest.policlinicogemelli.it.
Orphanet Journal of Rare Diseases
|June 9, 2019
Summary
Hereditary hemorrhagic telangiectasia (HHT) causes arteriovenous malformations, often leading to nosebleeds. Gastrointestinal bleeding and anemia are potential complications, requiring specialized gastroenterological management.
Area of Science:
- Genetics and rare diseases
- Vascular medicine
- Gastroenterology
Background:
- Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare genetic disorder.
- It is characterized by the development of arteriovenous malformations (AVMs) throughout the body.
- Common manifestations include frequent nosebleeds (epistaxis) and visible telangiectasias on the skin and mucous membranes.
Purpose of the Study:
- To review the current understanding of gastrointestinal (GI) manifestations in HHT patients.
- To highlight the challenges in diagnosing and managing GI complications, including small-bowel involvement.
- To emphasize the critical role of gastroenterologists in patient care.
Main Methods:
- Literature review of HHT and its GI complications.
- Analysis of diagnostic challenges in visualizing the small bowel.
- Discussion of management strategies for GI bleeding and related conditions.
Main Results:
- Telangiectasias can affect the upper GI tract, with limited data on small-bowel AVMs due to diagnostic difficulties.
- AVMs in the stomach and small bowel can lead to chronic bleeding and anemia.
- Hepatic AVMs in HHT patients may cause cirrhosis and portal hypertension, potentially leading to esophageal varices and bleeding.
Conclusions:
- Gastrointestinal involvement in HHT is significant, though often underdiagnosed, particularly in the small bowel.
- Effective management requires a multidisciplinary approach with a focus on gastroenterological interventions.
- Further research and improved diagnostic techniques are needed to better detect and manage GI complications in HHT.