Tratamiento de la telangiectasia hemorrágica hereditaria en el paciente adulto

Begbie, 2003, Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): A view from the 21st century, Postgrad Med J, 79, 18, 10.1136/pmj.79.927.18 Portal de información de enfermedades raras y medicamentos huérfanos. [consultado 13 de Jun 2018]. Disponible en: www.orpha.net Shovlin, 2000, Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome), Am J Med Genet, 91, 66, 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P McDonald, 2015, Hereditary hemorrhagic telangiectasia: Genetics and molecular diagnostics in a new era, Front Genet, 6, 1, 10.3389/fgene.2015.00001 Ola, 2016, PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia, Nat Commun, 7, 13650, 10.1038/ncomms13650 Kroon, 2018, Systematic screening in hereditary hemorrhagic telangiectasia: A review, Curr Opin Pulm Med, 24, 260, 10.1097/MCP.0000000000000472 Faughnan, 2011, International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia, J Med Genet, 48, 73, 10.1136/jmg.2009.069013 Braverman, 1990, Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia, J Invest Dermatol, 95, 422, 10.1111/1523-1747.ep12555569 Letteboer, 2008, Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia, Am J Med Genet, 146, 2733, 10.1002/ajmg.a.32243 Solomon, 2017, Arteriovenous malformations of the brain, N Engl J Med, 376, 1859, 10.1056/NEJMra1607407 Jackson, 2017, Gastrointestinal manifestations of hereditary hemorrhagic telangiectasia (HHT): A systematic review of the literature, Dig Dis Sci, 62, 2623, 10.1007/s10620-017-4719-3 AAssar, 1991, The natural history of epistaxis in hereditary hemorrhagic telangiectasia, Laryngoscope, 101, 977, 10.1288/00005537-199109000-00008 Zarrabeitia, 2017, Quality of life in patients with hereditary haemorrhagic.telangiectasia (HHT), Health Qual Life Outcomes, 15, 19, 10.1186/s12955-017-0586-z Riera-Mestre, 2018, Registro informatizado de la telangiectasia hemorrágica hereditaria (Registro RiHHTa) en España: objetivos, métodos y resultados preliminares, Rev Clin Esp, 10.1016/j.rce.2018.07.002 Hoag, 2010, An epistaxis severity score for hereditary hemorrhagia telangiectasia, Laryngoscope, 120, 838, 10.1002/lary.20818 Shovlin, 2018, European reference Network for rare vascular diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia, Orphanet J Rare Dis, 13, 136, 10.1186/s13023-018-0850-2 Gaillard, 2014, Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: A European cross-over controlled trial in a rare disease, J Thromb Haemost, 12, 1494, 10.1111/jth.12654 Sadick, 2005, Estriol induced squamous metaplasia on the nasal mucosa in patients with hereditary hemorrhagic telangiectasia, Arch Med Res, 36, 468, 10.1016/j.arcmed.2005.03.037 Yaniv, 2011, Anti-estrogen therapy for hereditary hemorrhagic telangiectasia–a long-term clinical trial, Rhinology, 49, 214, 10.4193/Rhino09.201 Riss, 2015, Intranasal submucosal bevacizumab for epistaxis in hereditary hemorrhagic telangiectasia: A double-blind, randomized, placebo-controlled trial, Head Neck, 37, 783, 10.1002/hed.23655 Whitehead, 2016, Effect of topical intranasal therapy on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia: A randomized clinical trial, JAMA, 316, 943, 10.1001/jama.2016.11724 Dupuis-Girod, 2016, Effect of bevacizumab nasal spray on epistaxis duration in hereditary hemorrhagic telangectasia: A randomized clinical trial, JAMA, 316, 934, 10.1001/jama.2016.11387 Halderman, 2018, Bevacizumab for epistaxis in hereditary hemorrhagic telangiectasia: An evidence-based review, Am J Rhinol Allergy, 32, 258, 10.1177/1945892418768588 Invernizzi, 2015, Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: Results of a non-randomised, single-centre, phase 2 study, Lancet Haematol, 2, e465, 10.1016/S2352-3026(15)00195-7 Fang, 2017, Thalidomide for epistaxis in patients with hereditary hemorrhagic telangiectasia: A preliminary study, Otolaryngol Head Neck Surg, 157, 217, 10.1177/0194599817700573 Alsina-Sanchís, 2018, ALK1 loss results in vascular hyperplasia in mice and humans through PI3K activation, Arterioscler Thromb Vasc Biol, 38, 1216, 10.1161/ATVBAHA.118.310760 Castillo, 2016, Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans, Sci Transl Med, 8, 10.1126/scitranslmed.aad9982 Morais, 2012, Local sclerotherapy with polydocanol (Aethoxysklerol®) for the treatment of epistaxis in Rendu-Osler-Weber or Hereditary Hemorrhagic Telangiectasia (HHT): 15 years of experience, Rhinology, 50, 80, 10.4193/Rhino11.211 Lund, 1997, Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia, J Laryngol Otol, 111, 30, 10.1017/S0022215100136369 Richer, 2012, The young's procedure for severe epistaxis from hereditary hemorrhagic telangiectasia, Am J Rhinol Allergy, 26, 401, 10.2500/ajra.2012.26.3809 Khalid, 2008, Hepatic vascular malformations in hereditary hemorrhagic telangiectasia, Semin Liver Dis, 28, 247, 10.1055/s-0028-1085093 Buscarini, 2011, Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia, Dig Dis Sci, 56, 2166, 10.1007/s10620-011-1585-2 Buonamico, 2008, Liver involvement in a large cohort of patients with hereditary hemorrhagic telangietasia: Echo-color-Doppler vs multislice computed tomography study, J Hepatol, 48, 811, 10.1016/j.jhep.2007.12.022 Singh, 2014, Identifying the presence of clinically significant hepatic involvement in hereditary hemorrhagic telangiectasia using a simple scoring system, J Hepatol, 61, 124, 10.1016/j.jhep.2014.02.028 Martín-Llahí, 2017, Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver, Gastroenterol Hepatol, 40, 538, 10.1016/j.gastrohep.2017.03.011 Garcia-Tsao, 2000, Liver disease in patients with hereditary hemorrhagic telangiectasia, New Eng J Med, 343, 931, 10.1056/NEJM200009283431305 Garcia-Tsao, 2007, Liver involvement in hereditary hemorrhagic telangiectasia, J Hepatol, 46, 499, 10.1016/j.jhep.2006.12.008 Cavel, 2016, Comparison between Doppler ultrasonography and multiphase detector-row computed tomography in the detection of liver involvement in Rendu-Osler disease, Diagn Interv Imaging, 97, 451, 10.1016/j.diii.2014.01.023 Brenard, 2010, Large spectrum of liver vascular lesions including high prevalence of focal nodular hiperplasia in patients with hereditary hemorrhagic telangiectasia: The Belgian Registry base don 30 patients, Eur J Gastroenterol Hepatol, 22, 1253, 10.1097/MEG.0b013e32833ac4a1 Guilhem, 2017, Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia: a retrsopective study of 46 patients, PLoS One, 30, e0188943, 10.1371/journal.pone.0188943 Dupuis-Girord, 2012, Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output, JAMA, 307, 948 Liu, 2016, Clinical outcomes of patients with severe hepatic hereditary hemorrhagic telangiectasia after banding of the hepatic artery and banding/ligation of branches of the hepatic artery, Eur j Vasc Endovasc Sur, 51, 594, 10.1016/j.ejvs.2015.12.020 Felli, 2017, Liver transplantation for hereditary hemorrhagic telangiectasia: A systemic review, HPB (Oxford), 19, 567, 10.1016/j.hpb.2017.03.005 Muller, 2016, Hereditary hemorrhagic telangiectasia: to transplant ot not to transplant- is there a right time for liver transplantation?, Liver Int, 36, 1735, 10.1111/liv.13187 Sabba, 2004, Orthotopic liver transplantation and hereditary hemorrhagic telangiectasia: Do hepatic vascular malformations relapse? A long-term follow up study on two patients, J Hepatol, 41, 687, 10.1016/j.jhep.2004.06.007 Dupuis-Girod, 2017, The lung in hereditary hemorrhagic telangiectasia, Respiration, 94, 315, 10.1159/000479632 Shovlin, 2014, Pulmonary arteriovenous malformations, Am J Respir Crit Care Med, 190, 1217, 10.1164/rccm.201407-1254CI Boother, 2017, Cerebral abscess associated with odontogenic bacteremias hypoxemia, and iron loading in immunocompetent patients with right-to-left shunting through pulmonary arteriovenous malformations, Clin Infect Dis, 65, 595, 10.1093/cid/cix373 Santhirapala, 2014, Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations: A prospective 8-year series, Thorax, 69, 1046, 10.1136/thoraxjnl-2014-205289 Barzilai, 1991, Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations, Am J Cardiol, 68, 1507, 10.1016/0002-9149(91)90287-U Velthuis, 2013, Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: A striking association, Chest, 144, 542, 10.1378/chest.12-1599 Parra, 2010, Graded contrast echocardiography in pulmonary arteriovenous malformations, Eur Respir J, 35, 1279, 10.1183/09031936.00104309 Abdel Aal, 2016, Persistence of pulmonary arteriovenous malformations after successful embolotherapy with Amplatzer vascular plug: Long-term results, Diagn Interv Radiol, 22, 358, 10.5152/dir.2015.15262 Blivet, 2014, Impact of pulmonary arteriovenous malformations on respiratory-related quality of life in patients with hereditary haemorrhagic telangiectasia, PLoS One, 9, e90937, 10.1371/journal.pone.0090937 Bakhos, 2016, Contemporary role of minimally invasive thoracic surgery in the management of pulmonary arteriovenous malformations: Report of two cases and review of the literature, J Thorac Dis, 8, 195 Lee, 2003, Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations, Chest, 123, 351, 10.1378/chest.123.2.351 Vorselaars, 2016, Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia, Eur Respir J, 47, 1750, 10.1183/13993003.01588-2015 Chizinga, 2017, Pulmonary hypertension prevalence and prognosis in a cohort of patients with hereditary hemorrhagic telangiectasia undergoing embolization of pAVMs, Am J Respir Crit Care Med, 196, 1353, 10.1164/rccm.201702-0267LE Li, 2018, The clinical characteristics and long-term prognosis of pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia, Pulm Circ, 8, 1, 10.1177/2045894018759918 Shovlin, 2008, Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure, Eur Respir J, 32, 162, 10.1183/09031936.00126207