Abstract
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is an autosomal dominant disorder characterized by abnormal blood vessel formation. The incidence is one in 5,000, with five genetic variants currently recognized.
The gastrointestinal symptoms include:
Occult bleeding with iron deficiency
Symptomatic bleeding with melena, hematemesis, rectal bleeding (25 % of patients >60)
Rarely portal hypertension, biliary disease, hepatic encephalopathy
The most common clinical signs and findings are:
80 % present as spontaneous epistaxis
Arteriovenous malformations (AVMs) occur throughout the body including the GI tract, lungs, liver, brain/spinal cord
Telangiectasia appears in the stomach, small bowel and colon in 10–33 % of patients and can lead to GI bleeding
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Zakko, L. (2013). Hereditary Hemorrhagic Telangiectasia: Gastrointestinal Features. In: Wu, G., Selsky, N., Grant-Kels, J. (eds) Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6191-3_33
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DOI: https://doi.org/10.1007/978-1-4614-6191-3_33
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