Telangiectasia hemorrágica hereditaria como causa de anemia ferropénica grave de origen oscuro
Hereditary hemorrhagic telangiectasia as a cause of severe iron deficiency anemia of obscure origin
Barra lateral del artículo
PDF
FLIP
Contenido principal del artículo
Resumen
Introducción: la telangiectasia hemorrágica hereditaria o enfermedad de Osler-Weber-Rendu es una entidad autosómica dominante rara, con una frecuencia que oscila entre 1 por cada 5000 habitantes a 1 por cada 1331 dependiendo de la población y localización geográfica. Se caracteriza clínicamente por telangiectasias, epistaxis a repetición, lesiones viscerales vasculares como angioectasias y MAVs (malformaciones arteriovenosas). El diagnóstico se sospecha con tres de los 4 criterios de Curazao y se confirma con estudios genéticos y complementarios. El tratamiento para las angioectasias es el Argón plasma y para la MAV tratamiento médico con bevacizumab, embolización o resección quirúrgica y en última instancia trasplante hepático. El pronóstico es favorable si las complicaciones son diagnosticadas y tratadas a tiempo. Caso clínico: se presenta el caso de una paciente de 51 años de edad que se presentó con astenia y adinamia en la que se documentó telangiectasias en lengua, labios y dedos y se llegó al diagnóstico de telangiectasia hemorrágica hereditaria luego de la confirmación de malformación arteriovenosa hepática y telangiectasias gástricas. Con base en este caso clínico y la pertinente revisión de la literatura, se propone un enfoque diagnóstico y terapéutico como parte del abordaje de esta enfermedad. Conclusión: la telangiectasia hemorrágica hereditaria al ser una enfermedad rara con una alta carga de morbilidad, la cual puede llegar a ser un reto diagnóstico llegando a representar una causa de anemia severa de origen gastrointestinal.
Descargas
Datos de publicación
Perfil evaluadores/as N/D
Declaraciones de autoría
- Editor y equipo editorial
- Perfiles
- Sociedad académica
- Universidad de Cartagena
- Editorial
- Universidad de Cartagena
Para obtener más información sobre un dato, haga clic 
Public Facts Label - Plugin Mantenido por Public Knowledge Project
Detalles del artículo
Referencias (VER)
Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Human Mutation. 2002 Jan 7;19 (2):140–8. DOI: https://doi.org/10.1002/humu.10026
Pierucci P, Lenato GM, Suppressa P, Lastella P, Triggiani V, Valerio R, et al. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet Journal of Rare Diseases. 2012 Jun 7;7 (1). DOI: https://doi.org/10.1186/1750-1172-7-33
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). American Journal of Medical Genetics. 2000 Mar 6;91 (1):66–7.
McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Frontiers in Genetics. 2015 Jan 26;6. DOI: https://doi.org/10.3389/fgene.2015.00001
Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, et al. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry. Orphanet Journal of Rare Diseases. 2020 Jun 5;15 (1). DOI: https://doi.org/10.1186/s13023-020-01422-8
Abdalla SA. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Journal of Medical Genetics. 2005 Jun 17;43 (2):97–110. DOI: https://doi.org/10.1136/jmg.2005.030833
Govani FS, Giess A, Mollet IG, Begbie ME, Jones MD, Game L, et al. Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia. Molecular Syndromology. 2013;4(4):184–96. DOI: https://doi.org/10.1159/000350208
Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary Hemorrhagic Telangiectasia: Arteriovenous Malformations in Children. The Journal of Pediatrics. 2013 Jul;163 (1):179-186.e3. DOI: https://doi.org/10.1016/j.jpeds.2013.02.009
Shovlin CL. Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment. Blood Reviews. 2010 Nov;24 (6):203–19. DOI: https://doi.org/10.1016/j.blre.2010.07.001
Latino GA, Al-Saleh S, Alharbi N, Edwards C, Faughnan ME, Ratjen F. Prevalence of Pulmonary Arteriovenous Malformations in Children versus Adults with Hereditary Hemorrhagic Telangiectasia. The Journal of Pediatrics. 2013 Jul;163 (1):282–4. DOI: https://doi.org/10.1016/j.jpeds.2013.02.021
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). American Journal of Medical Genetics. 2000 Mar 6;91 (1):66–7. DOI: https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Ratjen F. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Annals of Internal Medicine. 2021 Jul;174(7):1035–6.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Ratjen F. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Annals of Internal Medicine. 2021 Jul;174 (7):1035–6. DOI: https://doi.org/10.7326/L21-0067
Vascular Disease and the Growth, Repair, Regeneration and Degeneration of Vascular Elastic Membranes. Nutrition Reviews. 2009 Apr 27;18 (3):67–70. DOI: https://doi.org/10.1111/j.1753-4887.1960.tb01695.x
Gaillard S, Dupuis-Girod S, Boutitie F, Rivière S, Morinière S, Hatron P-Y., et al. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. Journal of Thrombosis and Haemostasis. 2014 Jul 29;12(9):1494–502. DOI: https://doi.org/10.1111/jth.12654
Geisthoff UW, Seyfert UT, Kübler M, Bieg B, Plinkert PK, König J. Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study. Thrombosis Research. 2014 Sep;134 (3):565–71. DOI: https://doi.org/10.1016/j.thromres.2014.06.012
Dupuis-Girod S, Ginon I, Saurin J-C, Marion D, Guillot E, Decullier E, et al. Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output. JAMA. 2012 Mar 7;307(9). DOI: https://doi.org/10.1001/jama.2012.250
Thompson AB, Ross DA, Berard P, Figueroa-Bodine J, Livada N, Richer SL. Very Low Dose Bevacizumab for the Treatment of Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia. Allergy & Rhinology. 2014 Jan;5 (2):ar.2014.5.0091. DOI: https://doi.org/10.2500/ar.2014.5.0091
Chavan A, Schumann-Binarsch S, Schmuck B, Oltmer F, Geisthoff U, Hoppe F, et al. Emerging role of bevacizumab in management of patients with symptomatic hepatic involvement in Hereditary Hemorrhagic Telangiectasia. American Journal of Hematology. 2017 Aug 24;92 (11):E641–4. DOI: https://doi.org/10.1002/ajh.24878
Iyer VN, Apala DR, Pannu BS, Kotecha A, Brinjikji W, Leise MD, et al. Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia–Related Epistaxis and Gastrointestinal Bleeding. Mayo Clinic Proceedings. 2018 Feb;93 (2):155–66. DOI: https://doi.org/10.1016/j.mayocp.2017.11.013
Epperla N, Kapke JT, Karafin M, Friedman KD, Foy P. Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. American Journal of Hematology. 2016 Apr 28;91 (6):E313–4. DOI: https://doi.org/10.1002/ajh.24367
Al-Samkari H, Kritharis A, Rodriguez-Lopez JM, Kuter DJ. Systemic bevacizumab for the treatment of chronic bleeding in hereditary haemorrhagic telangiectasia. Journal of Internal Medicine. 2018 Oct 9;285(2):223–31. DOI: https://doi.org/10.1111/joim.12832
Rosenberg T, Fialla AD, Kjeldsen J, Kjeldsen AD. Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series. Rhinology journal. 2019 Jan 1;0(0). DOI: https://doi.org/10.4193/Rhin18.289
Guilhem A, Fargeton A-E, Simon A-C, Duffau P, Harle J-R, Lavigne C, et al. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients. de Jesus Perez VA, editor. PLOS ONE. 2017 Nov 30;12 (11):e0188943. DOI: https://doi.org/10.1371/journal.pone.0188943
van Tuyl SAC, Letteboer TGW, Rogge-Wolf C, Kuipers EJ, Snijder RJ, Westermann CJJ, et al. Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia. European Journal of Gastroenterology & Hepatology. 2007 Feb;19 (2):153–8. DOI: https://doi.org/10.1097/01.meg.0000252633.88419.04
Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, et al. Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. Genetics in Medicine. 2014 Jan;16 (1):3–10. DOI: https://doi.org/10.1038/gim.2013.62
Ingrosso M, Sabbà C, Pisani A, Principi M, Gallitelli M, Cirulli A, et al. Evidence of Small-Bowel Involvement in Hereditary Hemorrhagic Telangiectasia: a Capsule-Endoscopic Study. Endoscopy. 2004 Dec;36 (12):1074–9. DOI: https://doi.org/10.1055/s-2004-826045
Becq A, Rahmi G, Perrod G, Cellier C. Hemorrhagic angiodysplasia of the digestive tract: pathogenesis, diagnosis, and management. Gastrointestinal Endoscopy. 2017 Nov;86 (5):792–806. DOI: https://doi.org/10.1016/j.gie.2017.05.018
Kwan V, Bourke MJ, Williams SJ, Gillespie PE, Murray MA, Kaffes AJ, et al. Argon Plasma Coagulation in the Management of Symptomatic Gastrointestinal Vascular Lesions: Experience in 100 Consecutive Patients with Long-Term Follow-Up. The American Journal of Gastroenterology. 2006 Jan;101 (1):58–63.
Zaffar N, Ravichakaravarthy T, Faughnan ME, Shehata N. The use of anti-fibrinolytic agents in patients with HHT: a retrospective survey. Annals of Hematology. 2014 Jul 27;94 (1):145–52. DOI: https://doi.org/10.1007/s00277-014-2169-y
Faughnan ME, Gossage JR, Chakinala MM, Oh SP, Kasthuri R, Hughes CCW, et al. Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. Angiogenesis. 2018 Sep 6;22 (1):145–55. DOI: https://doi.org/10.1007/s10456-018-9646-1
EASL Clinical Practice Guidelines: Vascular diseases of the liver. Journal of Hepatology. 2016 Jan;64 (1):179–202. DOI: https://doi.org/10.1016/j.jhep.2015.07.040
Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L, et al. Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening. Ultraschall in der Medizin - European Journal of Ultrasound. 2004 Sep 14;25(05):348–55. DOI: https://doi.org/10.1055/s-2004-813549
Caselitz M. Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Hepatology. 2003 May;37(5):1139–46. DOI: https://doi.org/10.1053/jhep.2003.50197
Schelker RC, Barreiros AP, Hart C, Herr W, Jung E-M. Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia. World Journal of Gastroenterology. 2017;23 (3):486. DOI: https://doi.org/10.3748/wjg.v23.i3.486
Buonamico P, Suppressa P, Lenato GM, Pasculli G, D’Ovidio F, Memeo M, et al. Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: Echo-color-Doppler vs multislice computed tomography study. Journal of Hepatology. 2008 May;48 (5):811–20. DOI: https://doi.org/10.1016/j.jhep.2007.12.022
Buscarini E, Gebel M, Ocran K, Manfredi G, Del Vecchio Blanco G, Stefanov R, et al. Interobserver Agreement in Diagnosing Liver Involvement in Hereditary Hemorrhagic Telangiectasia by Doppler Ultrasound. Ultrasound in Medicine & Biology. 2008 May;34(5):718–25. DOI: https://doi.org/10.1016/j.ultrasmedbio.2007.11.007
Wu JS, Saluja S, Garcia-Tsao G, Chong A, Henderson KJ, White RI. Liver Involvement in Hereditary Hemorrhagic Telangiectasia: CT and Clinical Findings Do Not Correlate in Symptomatic Patients. American Journal of Roentgenology. 2006 Oct;187 (4):W399–405. DOI: https://doi.org/10.2214/AJR.05.1068
Scardapane A, Stabile Ianora A, Sabbà C, Moschetta M, Suppressa P, Castorani L, et al. Dynamic 4D MR angiography versus multislice CT angiography in the evaluation of vascular hepatic involvement in hereditary haemorrhagic telangiectasia. 2011 Jun 4;117 (1):29–45. DOI: https://doi.org/10.1007/s11547-011-0688-3
Milot L, Kamaoui I, Gautier G, Pilleul F. Hereditary-hemorrhagic telangiectasia: One-step magnetic resonance examination in evaluation of liver involvement. Gastroentérologie Clinique et Biologique. 2008 Aug;32(8-9):677–85. DOI: https://doi.org/10.1016/j.gcb.2008.04.033
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, et al. An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study. Haematologica. 2021;106(8):2161-9. DOI: https://doi.org/10.3324/haematol.2020.261859
Chen H, Zhang Z, Chen X, Wang C, Chen M, Liao H, et al. Meta-analysis of efficacy and safety of bevacizumab in the treatment of hereditary hemorrhagic telangiectasia epistaxis. Front Pharmacol. 2023;14:1089847. DOI: https://doi.org/10.3389/fphar.2023.1089847
Kwan V, Bourke MJ, Williams SJ, Gillespie PE, Murray MA, Kaffes AJ, Henriquez MS, Chan RO. Argon plasma coagulation in the management of symptomatic gastrointestinal Am J Gastroenterol. 2006;101(1):58. DOI: https://doi.org/10.1111/j.1572-0241.2006.00370.x
Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. Dig Dis Sci. 2017;62(10):2623-30. DOI: https://doi.org/10.1007/s10620-017-4719-3
