Hereditary angioedema: Patient journey approach in Mexico.
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Palabras clave

Hereditary angioedema
Quality of life
Anxiety
Depression
Mexico

Cómo citar

Hereditary angioedema: Patient journey approach in Mexico. (2023). Revista Alergia México, 70(3), 121-128. https://doi.org/10.29262/ram.v70i3.1250

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Resumen

Objective: To understand the patient’s journey with HAE from symptom initiation to diagnosis, treatment allocation, follow-up, and the impact of the disease on their quality of life in Mexico.

Methods: A survey was administered to the patients with HAE. Participants completed a questionnaire covering five domains: patient journey; effects on productivity, school performance and daily activities; quality of life; anxiety and depression. Responses were analyzed using descriptive statistics.

Results: A total of 17 surveys were analyzed (15 women and 2 men, age range: 23-67 years). Type I HAE was most common (71%), normal C1 inhibitor HAE was 12% and 18% did not know their HAE type. The average disease evolution was 13.7 years and the time from symptom initiation to diagnosis was 20 years. 59% of patients knew of one or two treatments available, 12% knew 3 treatments and 18% were aware of 4 or more, 12% were not aware of any treatments. 53% had a job, 18% referred a severely anxious state, 41% were depressed and all patients referred some social impact due to HAE.

Conclusions: There is a need to reinforce the knowledge of general practitioners on HAE to promote an earlier diagnosis and awareness of rare diseases and their impact on quality of life among the general population and promote the removal of barriers to treatment.

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Referencias

Orphanet. www.orpha.net. [Online].; 2022 [cited 2022 oct 21. Available from: https://www.orpha.net.

Alfaro-Murillo A, Martínez-Alfonso M, Castro-Cordero J, León-Bratti M, Ivankovich-Escoto G, Espinoza-Mora M. Hereditary Angioedema in Costa Rica. Rev Alerg Mex. 2020; 67(2):102-111.

Holguín-Gómez L, Vásquez-Ochoa L, Cardona R. Angioedema. Rev Alerg Mex. 2016; 63(4): 373-384.

Björkqvist J, de Maat S, Lewandrowski U, Di Gennaro A, Oschatz C, et al. Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. J Clin Invest. 2015 Aug 3; 125(8):3132-3146.

National Library of Medicine. medlineplus.gov. [Online].; 2022 [cited 2022 oct 14. Available from: https://medlineplus.gov/spanish/ency/article/003353.htm#:~:text=Los%20bajos%20niveles%20de%20C1,del%20intestino%20y%20dolor%20abdominal.

Balla Z, Ignácz B, Varga L, Kőhalmi K, Farkas H. How Angioedema Quality of Life Questionnaire Can Help Physicians in Treating C1-Inhibitor Deficiency Patients? Clin Rev Allergy Immunol. 2021 Aug; 61(1): 50-59.

Mayorga Á, Ayestas-Moreno G. Hereditary angioedema due to C1 inhibitor deficit: diagnostic and therapeutic challenges. Case report. Rev Alerg Mex. 2017; 64(4):493-498. [Text in Spanish]

Bafunno V, Firinu D, D’Apolito M, Cordisco G, Loffredo S, Leccese A., et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema J Allergy Clin Immunol.2018; 141: 1009-1017) c) kininogen gene (KIN1);

Wulff K, Rosmann H, Steinmüller-Magin L, Braenne I, Witzke G & Hardt J. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin Allergy 2019: 74 /12) 2479-24

Ariano S, D´Apolito M, Bova M, Bellanti F, Loffredo S et al. A myoferlin gain-of-function variant associates with a new type of hereditary angioedema- Allergy. 2020 Jun 16. doi: 10.1111/all.14454

Dewald G. A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2018. 1; 498:193-198

Bork K, Wulff K, Mohl BS, Steinmuller-Magin L, Witzke G, Hardt J et al. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation. J Allergy Clin Immunol 2021; 148: 1041-8.

Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M. The Genetics of Hereditary Angioedema: A Review. J Clin Med. 2021 May 9;10(9):2023. doi: 10.3390/jcm10092023. PMID: 34065094; PMCID: PMC8125999.

Martínez-Sauguer I, Escuriola C. Delayed diagnosis of hereditary angioedema: Thirty-nine years of inadequate treatment. Ann Allergy Asthma Immunol. 2016; 117(5): p. 554-556.

Berger J, Carroll M, Champoux E, Coop C. Extremely Delayed Diagnosis of Type II Hereditary Angioedema: Case Report and Review of the Literature. Mil Med. 2018; 183(11-12): p. e765-e767.

Busse P, Christiansen S, Riedl M, Banerji A, Bernstein J, Castaldo A, et al. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan; 9(1).

Blasco B, Aguilar C, Montero P, Labrador H, Martínez V, Andrés G, et al. Abbreviated Clinical Practice Guidelines for bradykinin-mediated angioedema in the emergency services. Monografías Emergencias. 2013; 7(1): p. 1-17.

Iwamoto K, Yamamoto B, Ohsawa I, Honda D, Horiuchi T, Tanaka A, et al. The diagnosis and treatment of hereditary angioedema patients in Japan: A patient reported outcome survey. Allergol Int. 2021 Apr; 70(2): p. 235-243.

Larenas-Linnemann D, Medina-Ávalos M, Ortega-Martell J, Beirana-Palencia A, Rojo-Gutiérrez M, et al. Mexican Clinical Guidelines for the Diagnosis and Treatment of Urticaria. Revista Alergia México. 2014; 61(Supl. 2): p. S117-S193.

Navarro R, Crespo D, Poveda A, Cebollero de Torre A. Algorithm for diagnosis and treatment of hereditary angioedema as a management tool. Farmacia Hospitalaria. 2013 dic; 37(6).

Reilly Associates [webpage on the Internet] Health Outcomes Research. 2019. [Accessed January 6, 2022]. Available from: http://www.reillyassociates.net/WPAI_AS.html.

Kulthanan, K., Chularojanamontri, L., Rujitharanawong, C. et al. Angioedema quality of life questionnaire (AE-QoL) - interpretability and sensitivity to change. Health Qual Life Outcomes. 2019; 17, 160. https://doi.org/10.1186/s12955-019-1229-3.

Rohan KJ, Rough JN, Evans M, Ho SY, Meyerhoff J, Roberts LM, Vacek PM. A protocol for the Hamilton Rating Scale for Depression: Item scoring rules, Rater training, and outcome accuracy with data on its application in a clinical trial. J Affect Disord. 2016 Aug; 200:111-8. doi: 10.1016/j.jad.2016.01.051.

Schneider, H., Esbitt, S., Gonzalez, J.S. Hamilton Anxiety Rating Scale. 2013. In: Gellman, M.D., Turner, J.R. (eds) Encyclopedia of Behavioral Medicine. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1005-9_197.

Devi R, Kanitkar K, Narendhar R, Sehmi K, Subramaniam K. A Narrative Review of the Patient Journey Through the Lens of Non-communicable Diseases in Low- and Middle-Income Countries. Adv Ther. 2020 Dec;37(12):4808-4830. doi: 10.1007/s12325-020-01519-3. Epub 2020 Oct 14. PMID: 33052560; PMCID: PMC7553852.

Méndez A, Quiroga M. Hereditary Angioedema. Archivos de alergia e inmunología clínica. 2018; 49(1): p. 13-23.

Siguencia-Nivelo K, Morales-Vargas E. Hereditary Angioedema and rare or orphan diseases in Ecuador. Revista Interdisciplinaria de Humanidades, Educación, Ciencia y Tecnología. 2021; VII: p. 48-67. [Text in Spanish]

Maurer M, Aygören-Pürsün E, Banerji A, Bernstein J, Balle B, et a. Consensus on treatment goals in hereditary angioedema: A global Delphi initiative. J Allergy Clin Immunol. 2021; p. S0091-6749.

Vazquez D, Josviak D, Fantini C, Fili N, Berardi A, Zwiener R, et al. Consensus on the diagnosis and treatment of hereditary angioedema in Argentina. Archivos de Alergia e Inmunología Clínica. 2021; 52(Suplemento 2): p. 6-13. [Text in Spanish]

Banerji A, Davis K, Brown T, Hollis K, Hunter S, Long J, et al. Patient-reported burden of hereditary angioedema: findings from a patient survey in the United States. Ann Allergy Asthma Immunol. 2020; 124(6): p. 600-607.

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