遗传性血管性水肿治疗方式与疾病负担研究进展

doi:10.35541/cjd.20220205

Abstract

Abstract: 【Abstract】 Hereditary angioedema （HAE） is an autosomal dominant genetic disease characterized by swelling of the skin and mucosa. The global prevalence of HAE is about 1/50 000, but relevant epidemiological data are still lacking in China. As a rare disease, HAE is still poorly recognized in clinical practice and society, often leading to misdiagnosis and incorrect treatment. Moreover, it seriously affects the quality of life and lifespan of patients, and brings a heavy economic burden to families and society. This review summarizes the epidemiology, treatment strategies, economic burden of HAE, as well as health-related quality of life of patients, aiming to improve the understanding of HAE among clinicians and healthcare decision-makers.

Key words: Angioedemas, hereditary, Cost of illness, Therapy, Quality of life

Liu Jia, Gu Yinghua, He Xiaoning, . Treatment and disease burden of hereditary angioedema[J]. Chinese Journal of Dermatology, 2026, 59(3): 282-286.doi:10.35541/cjd.20220205

References ［47］

［1］	Giavina⁃Bianchi P, Arruda LK, Aun MV, et al. Brazilian guidelines for hereditary angioedema management ⁃ 2017 update part 1: definition, classification and diagnosis［J］. Clinics（Sao Paulo）, 2018,73:e310. doi: 10.6061/clinics/2018/e310.
［2］	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［J］. Allergy, 2014,69（5）:602⁃616. doi: 10.1111/all.12380.
［3］	Maurer M, Magerl M, Ansotegui I, et al. The international WAO/EAACI guideline for the management of hereditary angioedema⁃The 2017 revision and update［J］. Allergy, 2018,73（8）:1575⁃1596. doi: 10.1111/all.13384.
［4］	Schöffl C, Wiednig M, Koch L, et al. Hereditary angioedema in Austria: prevalence and regional peculiarities［J］. J Dtsch Dermatol Ges, 2019,17（4）:416⁃423. doi: 10.1111/ddg.13815.
［5］	曹阳, 刘爽, 支玉香. 遗传性血管性水肿发病机制研究进展［J］. 中国医学科学院学报, 2020,42（5）:686⁃690. doi: 10.3881/j.issn.1000⁃503X.11407.
［6］	Longhurst HJ, Dempster J, Lorenzo L, et al. Real⁃world outcomes in hereditary angioedema: first experience from the Icatibant Outcome Survey in the United Kingdom［J］. Allergy Asthma Clin Immunol, 2018,14:28. doi: 10.1186/s13223⁃018⁃0253⁃x.
［7］	Henao MP, Kraschnewski JL, Kelbel T, et al. Diagnosis and screening of patients with hereditary angioedema in primary care［J］. Ther Clin Risk Manag, 2016,12:701⁃711. doi: 10.2147/TCRM.S86293.
［8］	Gabos G, Nadasan V, Mihaly E, et al. Hereditary angioedema due to C1⁃inhibitor deficiency in Romania: first national study, diagnostic and treatment challenges［J］. Iran J Immunol, 2020,17（3）:226⁃235. doi: 10.22034/iji.2020.85416.1709.
［9］	Bewtra AK, Levy RJ, Jacobson KW, et al. C1⁃inhibitor therapy for hereditary angioedema attacks: prospective patient assessments of health⁃related quality of life［J］. Allergy Asthma Proc, 2012,33（5）:427⁃431. doi: 10.2500/aap.2012.33.3597.
［10］	Xu YY, Zhi YX, Liu RL, et al. Upper airway edema in 43 patients with hereditary angioedema［J］. Ann Allergy Asthma Immunol, 2014,112（6）:539⁃544.e1. doi: 10.1016/j.anai.2014.03. 003.
［11］	Ayazi M, Fazlollahi MR, Mohammadzadeh I, et al. Delayed diagnosis of hereditary angioedema with C1⁃inhibitor deficiency in iranian children and adolescents［J］. Pediatr Allergy Immunol, 2019,30（3）:395⁃398. doi: 10.1111/pai.13028.
［12］	Zanichelli A, Longhurst HJ, Maurer M, et al. Misdiagnosis trends in patients with hereditary angioedema from the real⁃world clinical setting［J］. Ann Allergy Asthma Immunol, 2016,117（4）:394⁃398. doi: 10.1016/j.anai.2016.08.014.
［13］	国家卫生健康委办公厅.国家卫生健康委办公厅关于印发罕见病诊疗指南（2019年版）的通知（EB/OL）.（2019⁃02⁃27）［2021⁃08⁃31］. http://www.nhc.gov.cn/yzygj/s7659/201902/61d06b 4916c348e0810ce1fceb844333.shtml.
［14］	Roche O, Blanch A, Caballero T, et al. Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain［J］. Ann Allergy Asthma Immunol, 2005,94（4）:498⁃503. doi: 10.1016/S1081⁃1206（10）61121⁃0.
［15］	Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document［J］. Clin Exp Immunol, 2005,139（3）:379⁃394. doi: 10.1111/j.1365⁃2249.2005.02726.x.
［16］	Bygum A. Hereditary angio⁃oedema in Denmark: a nationwide survey［J］. Br J Dermatol, 2009,161（5）:1153⁃1158. doi: 10. 1111/j.1365⁃2133.2009.09366.x.
［17］	Zanichelli A, Arcoleo F, Barca MP, et al. A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy［J］. Orphanet J Rare Dis, 2015,10:11. doi: 10.1186/s13023⁃015⁃0233⁃x.
［18］	Jung JW, Suh DI, Park HJ, et al. Clinical features of hereditary angioedema in Korean patients: a nationwide multicenter study［J］. Int Arch Allergy Immunol, 2018,176（3⁃4）:272⁃279. doi: 10.1159/000488350.
［19］	Bouillet L, Launay D, Fain O, et al. Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients［J］. Ann Allergy Asthma Immunol, 2013,111（4）:290⁃294. doi: 10.1016/j.anai.2013.07.012.
［20］	Blasco AJ, Lázaro P, Caballero T, et al. Social costs of icatibant self⁃administration vs. health professional⁃administration in the treatment of hereditary angioedema in Spain［J］. Health Econ Rev, 2013,3（1）:2. doi: 10.1186/2191⁃1991⁃3⁃2.
［21］	Federici C, Perego F, Borsoi L, et al. Costs and effects of on⁃demand treatment of hereditary angioedema in Italy: a prospective cohort study of 167 patients［J］. BMJ Open, 2018,8（7）:e022291. doi: 10.1136/bmjopen⁃2018⁃022291.
［22］	Lumry WR. Hereditary angioedema: the economics of treatment of an orphan disease［J］. Front Med（Lausanne）, 2018,5:22. doi: 10.3389/fmed.2018.00022.
［23］	Busse PJ, Christiansen SC, Birmingham JM, et al. Development of a health⁃related quality of life instrument for patients with hereditary angioedema living in the United States［J］. J Allergy Clin Immunol Pract, 2019,7（5）:1679⁃1683.e7. doi: 10.1016/j.jaip.2018.11.042.
［24］	Bernstein JA, Tyson C, Relan A, et al. Modeling cost⁃effectiveness of on⁃demand treatment for hereditary angioedema attacks［J］. J Manag Care Spec Pharm, 2020,26（2）:203⁃210. doi: 10.18553/jmcp.2019.19217.
［25］	Mendivil J, Murphy R, de la Cruz M, et al. Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey［J］. Orphanet J Rare Dis, 2021,16（1）:94. doi: 10.1186/s13023⁃021⁃01717⁃4.
［26］	Xu YY, Jiang Y, Zhi YX, et al. Clinical features of hereditary angioedema in Chinese patients: new findings and differences from other populations［J］. Eur J Dermatol, 2013,23（4）:500⁃504. doi: 10.1684/ejd.2013.2105.
［27］	Bork K, Siedlecki K, Bosch S, et al. Asphyxiation by laryngeal edema in patients with hereditary angioedema［J］. Mayo Clin Proc, 2000,75（4）:349⁃354. doi: 10.4065/75.4.349.
［28］	Bork K, Hardt J, Witzke G. Fatal laryngeal attacks and mortality in hereditary angioedema due to C1⁃INH deficiency［J］. J Allergy Clin Immunol, 2012,130（3）:692⁃697. doi: 10.1016/j.jaci.2012.05.055.
［29］	Cao Y, Liu S, Zhi Y. The natural course of hereditary angioedema in a Chinese cohort［J］. Orphanet J Rare Dis, 2020,15（1）:257. doi: 10.1186/s13023⁃020⁃01526⁃1.
［30］	Lunn ML, Santos CB, Craig TJ. Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients?［J］. Ann Allergy Asthma Immunol, 2010,104（3）:211⁃214. doi: 10.1016/j.anai.2009.12.004.
［31］	Zanichelli A, Magerl M, Longhurst H, et al. Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe［J］. Allergy Asthma Clin Immunol, 2013,9（1）:29. doi: 10.1186/1710⁃1492⁃9⁃29.
［32］	Grumach AS, Longhurst HJ, Aberer W, et al. Pediatricians diagnosed few patients with childhood⁃presented hereditary angioedema: Icatibant Outcome Survey findings［J］. J Allergy Clin Immunol Pract, 2019,7（3）:1078⁃1080. doi: 10.1016/j.jaip. 2018.07.047.
［33］	Betschel S, Badiou J, Binkley K, et al. The International/Canadian Hereditary Angioedema Guideline［J］. Allergy Asthma Clin Immunol, 2019,15:72. doi: 10.1186/s13223⁃019⁃0376⁃8.
［34］	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［J］. J Allergy Clin Immunol, 2012,129（2）:308⁃320. doi: 10.1016/j.jaci.2011.11.025.
［35］	Busse PJ, Christiansen SC, Riedl MA, et al. US HAEA Medical Advisory Board 2020 Guidelines for the management of hereditary angioedema［J］. J Allergy Clin Immunol Pract, 2021,9（1）:132⁃150.e3. doi: 10.1016/j.jaip.2020.08.046.
［36］	Horiuchi T, Ohi H, Ohsawa I, et al. Guideline for hereditary angioedema（HAE） 2010 by the Japanese Association for Complement Research ⁃ secondary publication［J］. Allergol Int, 2012,61（4）:559⁃562. doi: 10.2332/allergolint.12⁃RAI⁃0471.
［37］	中华医学会变态反应学分会, 中国医师协会变态反应医师分会, 支玉香, 等. 遗传性血管性水肿的诊断和治疗专家共识［J］. 中华临床免疫和变态反应杂志, 2019,13（1）:1⁃4. doi: 10. 3969j.issn.1673⁃8705.2019.01.001.
［38］	Horiuchi T. Guideline for hereditary angioedema（HAE） 2010 by the Japanese Association for Complement Research: points for diagnosis and treatment［J］. Arerugi, 2014,63（6）:749⁃753.
［39］	张凌凡, 赵宇晗, 李智慧, 等. 遗传性血管性水肿治疗药物的临床研究进展［J］. 世界临床药物, 2020,41（4）:319⁃322. doi: 10.13683/j.wph.2020.04.015.
［40］	Wilson DA, Bork K, Shea EP, et al. Economic costs associated with acute attacks and long⁃term management of hereditary angioedema［J］. Ann Allergy Asthma Immunol, 2010,104（4）:314⁃320. doi: 10.1016/j.anai.2010.01.024.
［41］	Petraroli A, Squeglia V, Di Paola N, et al. Home therapy with plasma⁃derived C1 inhibitor: a strategy to improve clinical outcomes and costs in hereditary angioedema［J］. Int Arch Allergy Immunol, 2015,166（4）:259⁃266. doi: 10.1159/000381341.
［42］	Javaud N, Bouillet L, Rabetrano H, et al. Hereditary angioedema: clinical presentation and socioeconomic cost of 200 French patients［J］. J Allergy Clin Immunol Pract, 2019,7（1）:328⁃330. doi: 10.1016/j.jaip.2018.05.036.
［43］	Spanò R, Di Paola N, Bova M, et al. Value co⁃creation in healthcare: evidence from innovative therapeutic alternatives for hereditary angioedema［J］. BMC Health Serv Res, 2018,18（1）:571. doi: 10.1186/s12913⁃018⁃3389⁃y.
［44］	Castaldo AJ, Jervelund C, Corcoran D, et al. Assessing the cost and quality⁃of⁃life impact of on⁃demand⁃only medications for adults with hereditary angioedema［J］. Allergy Asthma Proc, 2021,42（2）:108⁃117. doi: 10.2500/aap.2021.42.200127.
［45］	Liu S, Wang X, Xu Y, et al. Health⁃related quality of life and its risk factors in Chinese hereditary angioedema patients［J］. Orphanet J Rare Dis, 2019,14（1）:191. doi: 10.1186/s13023⁃019⁃1159⁃5.
［46］	Aygören⁃Pürsün E, Bygum A, Beusterien K, et al. Estimation of EuroQol 5⁃Dimensions health status utility values in hereditary angioedema［J］. Patient Prefer Adherence, 2016,10:1699⁃1707. doi: 10.2147/PPA.S100383.
［47］	Engel⁃Yeger B, Farkas H, Kivity S, et al. Health⁃related quality of life among children with hereditary angioedema［J］. Pediatr Allergy Immunol, 2017,28（4）:370⁃376. doi: 10.1111/pai.12712.

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