Consenso argentino de diagnóstico y tratamiento del angioedema hereditario

Autores/as

DOI:

https://doi.org/10.29262/ram.v68i6.914

Palabras clave:

angioedema hereditario; Argentina; consenso; diagnóstico; tratamiento

Resumen

Objetivos: El angioedema hereditario es una enfermedad poco frecuente. Durante los últimos años se han desarrollado muchas investigaciones y registrado avances con el objetivo de entender mejor la fisiopatología y optimizar la atención a los pacientes. Diversos grupos de trabajo internacionales han intentado clarificar y normalizar el cuidado de pacientes con angioedema hereditario, lo que se ha reflejado en guías y consensos. Consideramos necesario desarrollar un documento de consenso con recomendaciones para el diagnóstico y tratamiento del angioedema hereditario en Argentina.

Metodología: Un grupo de expertos de Argentina, conformado por especialistas en Alergia e Inmunología mediante metodología de ronda de encuestas a distancia y reuniones presenciales llevó adelante la elaboración del consenso pretendido.

Resultados: Se establecieron recomendaciones basadas en la evidencia publicada y en el criterio de los expertos participantes. Las recomendaciones se enfocaron en el diagnóstico, tratamiento y profilaxis de las crisis a corto y largo plazo, control de situaciones especiales y consideraciones del sistema de salud en Argentina.

Conclusión: Las recomendaciones establecidas en este consenso permitirán optimizar la atención médica de los pacientes con angioedema hereditario en Argentina.

Biografía del autor/a

Dr. Daniel Vazquez, Clínica Privada Monte Grande, Servicio de Alergia, Buenos Aires

Esp.Jerarquizado en alérgia e inmunología Miembro titular de la AAAeIC Past President de la AAAeIC Presidente del XL congreso de la AAAeIC Miembro fundador de la ALaeh

Citas

Cicardi M, Agostoni A. Hereditary angioedema. N Engl J Med 1996; 334: 1666-7.

Czaller I, Visy B, Csuka D, Fust G, Toth F, Farkas H. The natural history of hereditary angioedema and the impact of treatment with human C1-inhibitor concentrate during pregnancy: a long-term survey. Eur J Obstet Gynecol Reprod Biol. 2010;152:44-9.

Zuraw BL, Banerji A, Bernstein JA, et al. US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. J Allergy Clin Immunol Pract 2013;1:458-67.

Craig TJ, Bewtra AK, Bahna SL, et al. C1 esterase inhibitor concentrate in 1085 Hereditary Angioedema attacks--final results of the I.M.P.A.C.T.2 study. Allergy 2011;66:1604-11.

Farkas H, Martinez-Saguer I, Bork K, et al. International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. Allergy 2017;72:300-13.

Cicardi M, Aberer W, Banerji A, et al. Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy 2014;69:602-16.

Betschel S, Badiou J, Binkley K, et al. The International/Canadian Hereditary Angioedema Guideline. Allergy, Asthma and Clinical Immunology 2019;15:72.

Cicardi M, Bork K, Caballero T, et al. Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. Allergy 2012;67:147-57.

Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000;356:213-7.

Magerl M, Germenis AE, Maas C, Maurer M. Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment. Immunol Allergy Clin North Am 2017;37:571-84.

Bork K, Wulff K, Witzke G, Machnig T, Hardt J. Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene. Orphanet J Rare Dis 2020;15:52.

Agostoni A, Aygoren-Pursun E, Binkley KE, et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 2004;114:S51-131.

Fabiani JE, Avigliano A, Dupont JC. Hereditary angioedema. Long-term follow-up of 88 patients. Experience of the Argentine Allergy and Immunology Institute. Allergol Immunopathol (Madr) 2000;28:267-71.

Baeza ML, Caballero Molina T, Crespo Diz C, et al. [Algorithm for diagnosis and treatment of hereditary angioedema as a tool for management]. Farmacia Hospitalaria 2013;37:521-9.

Craig TJ, Bewtra AK, Hurewitz D, et al. Treatment response after repeated administration of C1 esterase inhibitor for successive acute hereditary angioedema attacks. Allergy Asthma Proc 2012;33:354-61.

Cicardi M, Bellis P, Bertazzoni G, et al. Guidance for diagnosis and treatment of acute angioedema in the emergency department: consensus statement by a panel of Italian experts. Intern Emerg Med 2014;9:85-92.

Maurer M, Magerl M, Ansotegui I, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2017 revision and update. Allergy 2018;73:1575-96.

Betschel S, Badiou J, Binkley K, et al. Canadian hereditary angioedema guideline. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2014;10:50.

Bell BG, Spencer R, Avery AJ, Campbell SM. Tools for measuring patient safety in primary care settings using the RAND/UCLA appropriateness method. BMC Fam Pract 2014;15:110.

Santori G, Fontana I, Valente R, Ghirelli R, Valente U. Application of the RAND/UCLA Appropriateness Method to evaluate an information system for kidney/pancreas transplantation in adult recipients. Transplant Proc 2008;40:2021-3.

Tarzi MD, Hickey A, Forster T, Mohammadi M, Longhurst HJ. An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema. Clin Exp Immunol 2007;149:513-6.

Karim Y, Griffiths H, Deacock S. Normal complement C4 values do not exclude hereditary angioedema. J Clin Pathol 2004;57:213-4.

Pedrosa M, Phillips-Angles E, Lopez-Lera A, Lopez-Trascasa M, Caballero T. Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children. J Clin Immunol 2016;36:16-8.

Craig TJ, Rojavin MA, Machnig T, Keinecke HO, Bernstein JA. Effect of time to treatment on response to C1 esterase inhibitor concentrate for hereditary angioedema attacks. Ann Allergy Asthma Immunol 2013;111:211-5.

Longhurst HJ. Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? Int J Clin Pract 2005;59:594-9.

Craig TJ, Levy RJ, Wasserman RL, et al. Efficacy of human C1 esterase inhibitor concentrate compared with placebo in acute hereditary angioedema attacks. J Allergy Clin Immunol 2009;124:801-8.

Zuraw BL, Busse PJ, White M, et al. Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. N Engl J Med 2010;363:513-22.

Cicardi M, Banerji A, Bracho F, et al. Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. N Engl J Med 2010;363:532-41.

Lumry WR, Li HH, Levy RJ, et al. Randomized placebo-controlled trial of the bradykinin B(2) receptor antagonist icatibant for the treatment of acute attacks of hereditary angioedema: the FAST-3 trial. Ann Allergy Asthma Immunol 2011;107:529-37.

Levy RJ, Lumry WR, McNeil DL, et al. EDEMA4: a phase 3, double-blind study of subcutaneous ecallantide treatment for acute attacks of hereditary angioedema. Ann Allergy Asthma Immunol 2010;104:523-9.

Sheffer AL, Campion M, Levy RJ, Li HH, Horn PT, Pullman WE. Ecallantide (DX-88) for acute hereditary angioedema attacks: integrated analysis of 2 double-blind, phase 3 studies. J Allergy Clin Immunol 2011;128:153-9 e4.

Zuraw B, Cicardi M, Levy RJ, et al. Recombinant human C1-inhibitor for the treatment of acute angioedema attacks in patients with hereditary angioedema. J Allergy Clin Immunol 2010;126:821-7.e14.

Riedl MA, Bernstein JA, Li H, et al. Recombinant human C1-esterase inhibitor relieves symptoms of hereditary angioedema attacks: phase 3, randomized, placebo-controlled trial. Ann Allergy Asthma Immunol 2014;112:163-9 e1.

Prematta M, Gibbs JG, Pratt EL, Stoughton TR, Craig TJ. Fresh frozen plasma for the treatment of hereditary angioedema. Ann Allergy Asthma Immunol 2007; 98:383-8.

Bork K, Wulff K, Steinmuller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy 2018;73:442-50.

Bork K, Wulff K, Witzke G, Hardt J. Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). Allergy 2017;72:320-4.

Deroux A, Boccon-Gibod I, Fain O, et al. Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema. Clin Exp Immunol 2016;185:332-7.

Veronez CL, Moreno AS, Constantino-Silva RN, et al. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. J Allergy Clin Immunol Pract 2018;6:1209-16 e8.

Belbezier A, Hardy G, Marlu R, et al. Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: Three additional French families. Allergy 2018;73:2237-9.

Bork K, Frank J, Grundt B, Schlattmann P, Nussberger J, Kreuz W. Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). J Allergy Clin Immunol 2007;119:1497-503.

Nicola S, Rolla G, Brussino L. Breakthroughs in hereditary angioedema management: a systematic review of approved drugs and those under research. Drugs Context 2019;8:212605.

Aygoren-Pursun E, Martinez Saguer I, Kreuz W, Klingebiel T, Schwabe D. Risk of angioedema following invasive or surgical procedures in HAE type I and II--the natural history. Allergy 2013;68:1034-9.

Bork K, Barnstedt SE. Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. J Am Dent Assoc 2003;134:1088-94.

Bork K, Hardt J, Staubach-Renz P, Witzke G. Risk of laryngeal edema and facial swellings after tooth extraction in patients with hereditary angioedema with and without prophylaxis with C1 inhibitor concentrate: a retrospective study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011;112:58-64.

Farkas H, Gyeney L, Gidofalvy E, Fust G, Varga L. [Efficacy of short-term danazol treatment in hereditary angioneurotic edema patients undergoing maxillofacial and dental surgical procedures]. Fogorv Sz 1998;91:171-8.

Farkas H. Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. Paediatric drugs 2018;20:135-51.

Waytes AT, Rosen FS, Frank MM. Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. N Engl J Med 1996;334:1630-4.

Longhurst H, Cicardi M, Craig T, et al. Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor. N Engl J Med 2017;376:1131-40.

Hwang G, Johri A, Ng S, Craig T. A review of kallikrein inhibitor lanadelumab in hereditary angioedema. Immunotherapy 2019;11:937-44.

Banerji A, Riedl MA, Bernstein JA, et al. Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial. Jama 2018;320:2108-21.

Bork K, Bygum A, Hardt J. Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2008;100:153-61.

Fust G, Farkas H, Csuka D, Varga L, Bork K. Long-term efficacy of danazol treatment in hereditary angioedema. European journal of clinical investigation 2011;41:256-62.

Sheffer AL, Austen KF, Rosen FS. Tranexamic acid therapy in hereditary angioneurotic edema. N Engl J Med 1972;287:452-4.

Blohme G. Treatment of hereditary angioneurotic oedema with tranexamic acid. A random double-blind cross-over study. Acta Med Scand 1972;192:293-8.

Wintenberger C, Boccon-Gibod I, Launay D, et al. Tranexamic acid as maintenance treatment for non-histaminergic angioedema: analysis of efficacy and safety in 37 patients. Clin Exp Immunol 2014;178:112-7.

Bork K. Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2010;6:15.

Bork K. Hereditary angioedema with normal C1 inhibitor. Immunol Allergy Clin North Am 2013;33:457-70.

Bouillet L, Longhurst H, Boccon-Gibod I, et al. Disease expression in women with hereditary angioedema. Am J Obstet Gynecol 2008;199:484 e1-4.

Caballero T, Farkas H, Bouillet L, et al. International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. The Journal of allergy and clinical immunology 2012;129:308-20.

Gonzalez-Quevedo T, Larco JI, Marcos C, et al. Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. Journal of investigational allergology & clinical immunology 2016;26:161-7.

Caliskaner Z, Ozturk S, Gulec M, Dede M, Erel F, Karaayvaz M. A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema. Allergol Immunopathol (Madr) 2007;35:117-9.

Farkas H, Csuka D, Toth F, Koszegi L, Varga L. Successful pregnancy outcome after treatment with C1-inhibitor concentrate in a patient with hereditary angioedema and a history of four miscarriages. European journal of obstetrics, gynecology, and reproductive biology 2012;165:366-7.

Farkas H, Csuka D, Zotter Z, et al. Treatment of attacks with plasma-derived C1-inhibitor concentrate in pediatric hereditary angioedema patients. The Journal of allergy and clinical immunology 2013;131:909-11.

Hakl R, Kuklinek P, Krcmova I, et al. Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy. Journal of clinical immunology 2018;38:810-5.

Martinez-Saguer I, Rusicke E, Aygoren-Pursun E, Heller C, Klingebiel T, Kreuz W. Characterization of acute hereditary angioedema attacks during pregnancy and breast-feeding and their treatment with C1 inhibitor concentrate. Am J Obstet Gynecol 2010;203:131 e1-7.

Moldovan D, Bernstein JA, Hakl R, et al. Safety of recombinant human C1 esterase inhibitor for hereditary angioedema attacks during pregnancy. J Allergy Clin Immunol Pract 2019;7:2938-40.

Farkas H. Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy, asthma, and Clinical Immunology 2010;6:18.

Schneider L, Hurewitz D, Wasserman R, et al. C1-INH concentrate for treatment of acute hereditary angioedema: a pediatric cohort from the I.M.P.A.C.T. studies. Pediatric Allergy and Immunology 2013;24:54-60.

Lumry W, Soteres D, Gower R, et al. Safety and efficacy of C1 esterase inhibitor for acute attacks in children with hereditary angioedema. Pediatric allergy and immunology 2015;26:674-80.

European Medicines Agency. Firazyr ® European Medicines Agency [Internet]. European Medicines Agency; 2018. https ://www.ema.europa.eu/en/medic ines/human /EPAR/firaz yr. Accessed 10 Apr 2019.

Cicardi M, Levy RJ, McNeil DL, et al. Ecallantide for the treatment of acute attacks in hereditary angioedema. N Engl J Med 2010;363:523-31.

Lumry W, Manning ME, Hurewitz DS, et al. Nanofiltered C1-esterase inhibitor for the acute management and prevention of hereditary angioedema attacks due to C1-inhibitor deficiency in children. J Pediatr 2013;162:1017-22 e1-2.

Iglesias-Rogers G. Poor prognosis for Argentina’s health system. Lancet 2001;358:2059.

Nordenfelt P, Dawson S, Wahlgren CF, Lindfors A, Mallbris L, Bjorkander J. Quantifying the burden of disease and perceived health state in patients with hereditary angioedema in Sweden. Allergy Asthma Proc 2014;35:185-90.

Aygoren-Pursun E, Bygum A, Beusterien K, et al. Socioeconomic burden of hereditary angioedema: results from the hereditary angioedema burden of illness study in Europe. Orphanet J Rare Dis 2014;9:99.

Bygum A, Aygoren-Pursun E, Caballero T, et al. The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodology. BMC Dermatol 2012;12:4.

Caballero T, Aygoren-Pursun E, Bygum A, et al. The humanistic burden of hereditary angioedema: results from the Burden of Illness Study in Europe. Allergy Asthma Proc 2014;35:47-53.

Huang SW. Results of an on-line survey of patients with hereditary angioedema. Allergy Asthma Proc 2004;25:127-31.

Prior N, Remor E, Gomez-Traseira C, et al. Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. Health Qual Life Outcomes 2012;10:82.

Prior N, Remor E, Perez-Fernandez E, et al. Psychometric Field Study of Hereditary Angioedema Quality of Life Questionnaire for Adults: HAE-QoL. J Allergy Clin Immunol Pract 2016;4:464-73 e4.

Weller K, Groffik A, Magerl M, et al. Development and construct validation of the angioedema quality of life questionnaire. Allergy 2012;67:1289-98.

Lumry WR, Craig T, Zuraw B, et al. Health-Related Quality of Life with Subcutaneous C1-Inhibitor for Prevention of Attacks of Hereditary Angioedema. J Allergy Clin Immunol Pract 2018;6:1733-41 e3.

Lumry WR, Miller DP, Newcomer S, Fitts D, Dayno J. Quality of life in patients with hereditary angioedema receiving therapy for routine prevention of attacks. Allergy Asthma Proc 2014;35:371-6.

A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration-NCT01095497 -ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/ NCT01095497. Accessed 24 Mar 2019.

Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 2006;343:1286-9.

Kiss N, Barabas E, Varnai K, et al. Novel duplication in the F12 gene in a patient with recurrent angioedema. Clin Immunol 2013;149:142-5.

Bafunno V, Firinu D, D’Apolito M, et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immunol 2018;141:1009-17.

Bork K, Wulff K, Rossmann H, et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin. Allergy 2019;74:2479-81.

Publicado

2021-08-09