Guía de práctica clínica: tamizaje, diagnóstico y manejo de episodios agudos y profilaxis del angioedema hereditario – Parte I: Enfoque diagnóstico
Clinical practice guidelines: screening, diagnosis and management of acute events and prophylaxis of hereditary angioedema – Part I: Diagnostic approach
Óscar Calderón Llosa; Danny Roy Muñoz Campos; José Ignacio Larco Sousa; Erika Arruda-Chaves; Enrique Cachay Rojas; Javier Rolando Pérez Rojas; Edgar Emilio Matos Benavides; Jeanett Feliciana Carrillo Bermúdez; Mijahil Pavel Cornejo Ortega; Eduardo Tapia Risco; Gonzalo Deza Ruiz; José Enrique Gereda Solari; Jorge Arturo Aguilar Segura; Liliana Mateo Florián; Carlos Enrique Arauco Mejía; Marco Julio García Reynoso; Silvia Vargas Chugo; Isabel Chaw Ortega; Karina Castilla Montes; Carolina Castilla Montes
Resumen
El angioedema hereditario (AEH) es una enfermedad genética rara, con una prevalencia aproximada entre 1 por cada 50.000 habitantes, caracterizada por episodios de edemas a nivel subcutáneo y de mucosas (abdominal, genitourinario, respiratoria), siendo potencialmente mortal cuando hay afectación de la laringe. En Perú se estiman 600 pacientes con AEH. El AEH se puede clasificar del siguiente modo: con deficiencia del inhibidor de C1 (tipos I y II), y sin deficiencia del inhibidor de C1 (denominado anteriormente tipo III). El diagnóstico de laboratorio incluye prueba de complemento C4, prueba cuantitativa y cualitativa para inhibidor de C1 esterasa, y estudios genéticos. En esta primera parte de la Guía de Práctica Clínica, presentamos las recomendaciones para el enfoque diagnóstico del AEH.
Palabras clave
Abstract
Hereditary angioedema (HAE) is a genetic rare disease with a prevalence of approximately 1 per 50,000 inhabitants, characterized by episodes of edema at the subcutaneous level and mucous membranes (abdominal, genitourinary, respiratory), being potentially fatal when there is involvement of the larynx. In Peru, there are an estimated 600 patients with HAE. HAE can be classified as follows: with C1 inhibitor deficiency (types I and II), and without C1 inhibitor deficiency (previously called type III). Laboratory diagnosis includes C4 complement test, quantitative and qualitative tests for C1 inhibitor esterase, and genetic studies. In this first part of the Clinical Practice Guide, we present the recommendations for the diagnostic approach of HAE.
Keywords
References
1. Aguayo-Albasini JL, Flores-Pastor B, Soria-Aledo V. GRADE system: classification of quality of evidence and strength of recommendation. Cir Esp. 2014 Feb;92(2):82-8. Spanish. doi: 10.1016/j.ciresp.2013.08.002.
2. Duffey H, Firszt R. Management of acute attacks of hereditary angioedema: role of ecallantide. J Blood Med. 2015;6:115-23. https://doi.org/10.2147/JBM.S66825.
3. Giavina-Bianchi P, Arruda LK, Aun MV, Campos RA, Chong-Neto HJ, Constantino-Silva RN, et al. Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis. Clinics (Sao Paulo). 2018;73:e310. doi: 10.6061/clinics/2018/e310.
4. Aygören-Pürsün E, Magerl M, Maetzel A, Maurer M. Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies. Orphanet J Rare Dis. 2018 May 4;13(1):73. doi: 10.1186/s13023-018-0815-5.
5. Henry Li H, Riedl M, Kashkin J. Update on the Use of C1-Esterase Inhibitor Replacement Therapy in the Acute and Prophylactic Treatment of Hereditary Angioedema. Clin Rev Allergy Immunol. 2019 Apr;56(2):207-18. doi: 10.1007/s12016-018-8684-1.
6. Bygum A, Busse P, Caballero T, Maurer M. Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema. Front Med (Lausanne). 2017 Dec 4;4:212. doi: 10.3389/fmed.2017.00212.
7. Longhurst H. Optimum Use of Acute Treatments for Hereditary Angioedema: Evidence-Based Expert Consensus. Front Med (Lausanne). 2018 Mar 12;4:245. doi: 10.3389/fmed.2017.00245.
8. Fox J, Vegh AB, Martinez-Saguer I, Wuillemin WA, Edelman J, Williams-Herman D, et al. Safety of a C1-inhibitor concentrate in pregnant women with hereditary angioedema. Allergy Asthma Proc. 2017 May 1;38(3):216-21. doi: 10.2500/aap.2017.38.4038.
9. Longhurst H, Zinser E. Prophylactic Therapy for Hereditary Angioedema. Immunol Allergy Clin North Am. 2017 Aug;37(3):557‑70. doi: 10.1016/j.iac.2017.04.003.
10. Bouillet L, Defendi F, Hardy G, Cesbron JY, Boccon-Gibod I, Deroux A, et al. Diagnostic biologique des angioedèmes bradykiniques: les recommandations du CREAK. Presse Med. 2019 Jan;48(1 Pt 1):55-62. French. doi: 10.1016/j.lpm.2018.06.015.
11. Zanichelli A, Mansi M, Azin GM, Wu MA, Periti G, Casazza G, et al. Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. Allergy. 2015 Dec;70(12):1553-8. doi: 10.1111/all.12731.
12. Maurer M, Magerl M, Ansotegui I, Aygören-Pürsün E, Betschel S, Bork K, et al. The international WAO/EAACI guideline for the management of hereditary angioedema - The 2017 revision and update. Allergy. 2018 Aug;73(8):1575-96. doi: 10.1111/all.13384.
13. Banerji A, Busse P, Shennak M, Lumry W, Davis-Lorton M, Wedner HJ, et al. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis. N Engl J Med. 2017 Feb 23;376(8):717-28. doi: 10.1056/ NEJMoa1605767.
14. Longhurst H, Cicardi M, Craig T, Bork K, Grattan C, Baker J; COMPACT Investigators. Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor. N Engl J Med. 2017 Mar 23;376(12):1131-40. doi: 10.1056/NEJMoa1613627.
15. Nicola S, Rolla G, Brussino L. Breakthroughs in hereditary angioedema management: a systematic review of approved drugs and those under research. Drugs Context. 2019 Oct 2;8:212605. doi: 10.7573/dic.212605. Erratum in: Drugs Context. 2019 Dec 30;8: PMID: 31645881; PMCID: PMC6788388.
16. Betschel S, Avilla E, Kanani A, Kastner M, Keith P, Binkley K, et al. Development of the Hereditary Angioedema Rapid Triage Tool. J Allergy Clin Immunol Pract. 2020 Jan;8(1):310-7.e3. doi: 10.1016/j.jaip.2019.05.056.
17. Brooks JP, Radojicic C, Riedl MA, Newcomer SD, Banerji A, Hsu FI. Experience with Intravenous Plasma-Derived C1- Inhibitor in Pregnant Women with Hereditary Angioedema: A Systematic Literature Review. J Allergy Clin Immunol Pract. 2020 Jun;8(6):1875‑80.e3. doi: 10.1016/j.jaip.2020.03.009.
18. Riedl MA. Critical appraisal of androgen use in hereditary angioedema: a systematic review. Ann Allergy Asthma Immunol. 2015 Apr;114(4):281-288.e7. doi: 10.1016/j.anai.2015.01.003.
19. Craig TJ, Schneider LC, MacGinnitie AJ. Plasma-derived C1-INH for managing hereditary angioedema in pediatric patients: A systematic review. Pediatr Allergy Immunol. 2015 Sep;26(6):537-44. doi: 10.1111/pai.12425.
20. Maurer M, Aberer W, Agondi R, Al-Ahmad M, Al-Nesf MA, Ansotegui I, et al. Definition, aims, and implementation of GA2 LEN/HAEi Angioedema Centers of Reference and Excellence. Allergy. 2020 Aug;75(8):2115-23. doi: 10.1111/all.14293.
21. Caballero MT, Cabañas RM. Angioedema. 1ª ed. España: Comunicación y Ediciones Sanitarias, S.L; 2016. p. 11-12.
Submitted date:
10/29/2020
Accepted date:
12/10/2020
Facebook
Google+
Twitter
LinkedIn
Mendeley
StumbleUpon
CiteULike
Reddit
Email