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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders

Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome)

Publication ,  Chapter
Roman, BL; Marchuk, DA; Trerotola, SO; Pyeritz, RE
January 1, 2019

Hereditary hemorrhagic telangiectasia is an autosomal-dominant, highly penetrant, and variable multisystem disorder caused by maldevelopment of capillaries. The condition used to be called Osler-Weber-Rendu syndrome. The major features are epistaxis, mucocutaneous telangiectases, and visceral arteriovenous malformations (especially in the brain, gastrointestinal tract, liver, and lung). The mutations defined thus far are in genes involved in signaling through the transforming growth factor β/bone morphogenetic protein pathway in endothelial cells. Early diagnosis, clinical screening, and aggressive management can greatly reduce morbidity and mortality.

Duke Scholars

DOI

ISBN

9780128126806

Publication Date

January 1, 2019

Start / End Page

115 / 140
 

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Roman, B. L., Marchuk, D. A., Trerotola, S. O., & Pyeritz, R. E. (2019). Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome). In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders (pp. 115–140). https://doi.org/10.1016/B978-0-12-812532-8.00003-3
Roman, B. L., D. A. Marchuk, S. O. Trerotola, and R. E. Pyeritz. “Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome).” In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 115–40, 2019. https://doi.org/10.1016/B978-0-12-812532-8.00003-3.
Roman BL, Marchuk DA, Trerotola SO, Pyeritz RE. Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome). In: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders. 2019. p. 115–40.
Roman, B. L., et al. “Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome).” Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 2019, pp. 115–40. Scopus, doi:10.1016/B978-0-12-812532-8.00003-3.
Roman BL, Marchuk DA, Trerotola SO, Pyeritz RE. Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome). Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders. 2019. p. 115–140.
Journal cover image

DOI

ISBN

9780128126806

Publication Date

January 1, 2019

Start / End Page

115 / 140