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
Citation
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MLA
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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.
DOI
ISBN
9780128126806
Publication Date
January 1, 2019
Start / End Page
115 / 140