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Osler–Weber–Rendu syndrome, also known as hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant disorder of abnormal blood vessel formation manifesting as telangiectasias and arteriovenous malformations (AVMs). The criteria for the diagnosis of HHT are epistaxis, multiple telangiectasias at mucocutaneous surfaces, AVMs in larger organ systems, and a family history of HHT.1–3 Recurrent epistaxis is the most common presenting complaint.
Cerebral AVMs occur in about 10–20% of patients with HHT, and are associated with high mortality and morbidity due to stroke or brain abscess. MRI is currently the best way to detect these vascular malformations. Gastrointestinal telangiectasia, including angiodysplasia, is a common manifestation of HHT. Recurrent upper or lower gastrointestinal bleeding occurs in approximately 20% of patients with HHT and …
Contributors JLPeS: responsible for the overall content as guarantor, wrote the manuscript and approved its submission. GZ: planned the work, collection of data; analysis and interpretation of data, read and approves the manuscript. EM: responsible for the overall content as guarantor, wrote the manuscript and approved its submission.
Competing interests None.
Patient consent Obtained.
Ethics approval The approval was waived by the Ethics Committee/Institutional Review Board.
Provenance and peer review Not commissioned; externally peer reviewed.
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