遗传性出血性毛细血管扩张症（HHT）的胃肠道表现：文献系统综述
Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.
作者信息
Jackson Samuel B, Villano Nicholas P, Benhammou Jihane N, Lewis Michael, Pisegna Joseph R, Padua David
机构信息
Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
出版信息
Dig Dis Sci. 2017 Oct;62(10):2623-2630. doi: 10.1007/s10620-017-4719-3. Epub 2017 Aug 23.
Abstract
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.
摘要
遗传性出血性毛细血管扩张症（HHT），也称为奥斯勒-韦伯-伦杜综合征，是一种常染色体显性遗传病，会影响多个器官的脉管系统。据估计，HHT的患病率为每10000人中有1.5至2人。尽管对于这种病症仍有许多有待了解之处，但人们对其潜在的病理生理学、遗传基础、表现形式及治疗方法的认识正在不断加深。认识到HHT的临床表现可能涉及多个器官系统，将提高临床医生对该疾病的怀疑指数。这种早期诊断和基因分型通过对并发症进行适当筛查，可大大降低HHT患者的死亡率。本综述将聚焦于HHT的胃肠道表现以及这些表现如何决定治疗和预后。
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本文引用的文献
1
Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia.
Ochsner J. 2017 Summer;17(2):157-161.
2
Pulmonary hypertension in hereditary haemorrhagic telangiectasia.
World J Cardiol. 2015 May 26;7(5):230-7. doi: 10.4330/wjc.v7.i5.230.
3
Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia.
PLoS One. 2014 Feb 10;9(2):e88511. doi: 10.1371/journal.pone.0088511. eCollection 2014.
4
Medical management with or without interventional therapy for unruptured brain arteriovenous malformations (ARUBA): a multicentre, non-blinded, randomised trial.
Lancet. 2014 Feb 15;383(9917):614-21. doi: 10.1016/S0140-6736(13)62302-8. Epub 2013 Nov 20.
5
Liver resection in patients with hepatic hereditary hemorrhagic telangiectasia.
Dig Surg. 2013;30(4-6):410-4. doi: 10.1159/000351446. Epub 2013 Nov 5.
6
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
Genet Med. 2014 Jan;16(1):3-10. doi: 10.1038/gim.2013.62. Epub 2013 May 30.
7
The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.
Genet Med. 2014 Jan;16(1):33-9. doi: 10.1038/gim.2013.66. Epub 2013 May 23.
8
Prevalence of pulmonary arteriovenous malformations in children versus adults with hereditary hemorrhagic telangiectasia.
J Pediatr. 2013 Jul;163(1):282-4. doi: 10.1016/j.jpeds.2013.02.021. Epub 2013 Mar 20.
9
High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
Eur J Intern Med. 2013 Apr;24(3):e30-4. doi: 10.1016/j.ejim.2012.11.012. Epub 2012 Dec 13.
10
The many faces of Hereditary Hemorrhagic Telangiectasia: median arcuate ligament syndrome, arteriovenous malformations, and cerebral aneurysms.
Intern Emerg Med. 2012 Aug;7(4):385-6. doi: 10.1007/s11739-012-0810-0. Epub 2012 Jul 11.
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