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Kaushik Saha describes for SIIC the most significant aspects of his article describe para SIIC los aspectos relevantes de su artículo HEREDITARY HEMORRHAGIC TELANGIECTASIA Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited disorder of the vascular system. It is usually asymptomatic but when symptomatic most common presentation is epistaxis. It can involve any organs of the body like lungs, skin, liver brain, GI mucosa etc. We are reporting a case of HHT presented to us with dyspnea and severe anemia. He had arteriovenous malformations of different visceral organs and telangiectasia of skin along with presence of similar history in first-degree relatives. The article was published by El artículo fue publicado por
Principal institution where the research took place Institución principal de la investigación Nilratan Sircar Medical College and Hospital, Kolkata, West Bengal, India, Kolkata, West Bengal, India  Authors' Report Crónica del Autor Bibliographic references Referencias bibliográficas 1. Juares AJ, Dell'Aringa AR, Nardi JC, Kobari K, Moron G, Rodrigues VL, et al. Rendu-Osler-Weber Syndrome: Case report and literature review. Braz J Otorhinolaryngol 74:452-7, 2008. 2. Halefoglu AM. Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula. Australas Radiol 49:242-5, 2005. 3. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax 54:714-29, 1999. 4. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: A clinical and scientific review. Eur J Hum Genet 17:860-71, 2009. 5. Elmali M, Akan H, Findik S, Kale M, Celenk C. Hereditary hemorrhagic telangiectasia associated with pulmonary arteriovenous malformations presenting as hemothorax. J Thorac Imaging 23:295-7, 2008. 6. Sabba C. A rare and misdiagnosed bleeding disorder: Hereditary hemorrhagic telangiectasia. J Thromb Haemost 3:2201-10, 2005. 7. Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, et al. Hereditary hemorrhagic telangiectasia: An update on clinical manifestations and diagnostic measures. Wien Klin Wochenschr 118:72-80, 2006. 8. Shovlin CL, Guttmacher AE, Buscarini E. Diag-nostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66-7, 2000. 9. Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, et al. Hereditary hemorrhagic telangiectasia: Clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 5:1149-57, 2007. 10. Ingrosso M, Sabba C, Pisani A. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: A capsule-endoscopic study. Endoscopy 36:1074-9, 2004. 11. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): A view from the 21st century. Postgrad Med J 79:18-24, 2003. 12. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 48:73-87, 2011. SIIC System of Assisted Editing (SSEA) / Sistema SIIC de Edición Asistida (SSEA)
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Information about the full text Acerca del trabajo completo Dyspnea With Anemia Turned Out to be a Case of Hereditary Hemorrhagic Telangiectasia Author / Autor Kaushik Saha1 1 Dr., Burdwan Medical College And Hospital, Burdwan, West Bengal, India, Burdwan, India, Assistant Professor Access to the original source Asian Journal of Transfusion Science siic DB: / siic DB: http://www.siicsalud.com/main/distriprinrel.php |
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