What is Osler-Weber-Rendu syndrome?

Updated: Jun 06, 2020
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

Answer

Also termed hereditary hemorrhagic telangiectasia (HHT), Osler-Weber-Rendu syndrome is an autosomal dominant familial disorder characterized by telangiectases and vascular malformations of the skin and mucous membranes and recurrent GI bleeding. It may also affect the brain, lungs, and liver. The lesions are typically noticed in the first few years of life, and 50% of patients have had GI bleeding by the age of 10 years. A family history of the disease is reported in 80% of cases. [28]

Telangiectases are usually present on the lips, oral and nasopharyngeal membranes, tongue, and perlingual areas. They also occur in the colon but are more common in the stomach and small bowel, where they tend to cause significant bleeding. [29]

In one study, 6 of 24 patients (25%) evaluated with HHT developed colonic neoplasia, 3 had adenocarcinoma of the colon, and 3 more had multiple colonic polyps. [30] Elinav et al recommend lower GI tract evaluation for all patients with new-onset anemia or GI bleeding, even if the blood loss may be a manifestation of GI HHT. [31]


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