Chinese Journal of Dermatology ›› 2024, e20220205.doi: 10.35541/cjd.20220205
• Reviews • Next Articles
Liu Jia1,2, Gu Yinghua1,2, He Xiaoning1,2
Received:2022-03-29
Revised:2023-03-27
Online:2024-01-29
Published:2024-03-11
Contact:
He Xiaoning
E-mail:hexn@tju.edu.cn
Liu Jia, Gu Yinghua, He Xiaoning, . Treatment and disease burden of hereditary angioedema[J]. Chinese Journal of Dermatology,2024,e20220205. doi:10.35541/cjd.20220205
| [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. |
| [1] | Chen Yanyan, Zhang Hanlin, Liu Liping, Li Yumei. Correlations between circadian rhythm and melanoma [J]. Chinese Journal of Dermatology, 2026, 59(1): 82-85. |
| [2] | Jiang Jiayi, Wang Daguang. Prevention and management of thrombus during the perioperative period in dermatologic surgery [J]. Chinese Journal of Dermatology, 2026, 59(1): 85-88. |
| [3] | Writing committee of “Chinese expert consensus on the diagnosis and treatment of scabies ( edition)”. Chinese expert consensus on the diagnosis and treatment of scabies (2026 edition) [J]. Chinese Journal of Dermatology, 2026, 59(1): 1-8. |
| [4] | Xiang Leihong, Xu Zhongyi . Diagnosis and treatment of acquired dermal macular hyperpigmentation: challenges and strategies [J]. Chinese Journal of Dermatology, 2026, 59(1): 74-76. |
| [5] | Chinese Society of Dermatology, China Dermatologist Association, Combination of Traditional and Western Medicine Dermatology, Chinese Non-Government Dermatologist Institutions Association. Expert consensus on educational guidance for rosacea patients(2025) [J]. Chinese Journal of Dermatology, 2026, 0(1): 20240725-e20240725. |
| [6] | Xu Zhongyi, Xing Xiaoxue, Dong Yaqi, Zhang Chengfeng, Xiang Leihong. Retrospective analysis of clinical manifestations and treatment outcomes in 254 patients with melasma in a tertiary grade-A hospital in Shanghai [J]. Chinese Journal of Dermatology, 2025, 58(9): 808-815. |
| [7] | Jiang Ziqi, Zhong Judan, Chen Tingqiao, Chen Jin. Pathogenesis and treatment of melasma [J]. Chinese Journal of Dermatology, 2025, 58(9): 868-872. |
| [8] | Zhong Jiemin, Li Wei, Zhang Shujuan, Yang Yan, Xue Rujun, Li Xinyi, Ke Yanan, Chen Xiaoyin, Chen Quan. Comparison of the efficacy and safety of nanomicroneedle- versus ultrasound-mediated delivery of tranexamic acid for the treatment of melasma: a randomized controlled study [J]. Chinese Journal of Dermatology, 2025, 58(9): 829-833. |
| [9] | Guliziba·Tuersun, Zhao Yanan, Wang Hongjuan, Kang Xiaojing, Qu Yuanyuan. Efficacy of autologous melanocyte transplantation combined with 308-nm light-emitting diode phototherapy at escalating doses in the treatment of refractory stable vitiligo: a clinical observation [J]. Chinese Journal of Dermatology, 2025, 58(9): 852-856. |
| [10] | Dai Yeqin, Song Xiuzu. Application of hair follicle transplantation and follicular cell suspension transplantation in the treatment of vitiligo [J]. Chinese Journal of Dermatology, 2025, 58(9): 882-885. |
| [11] | Zhou Miaoni, Sheng Anqi, Fu Lifang, Jin Rong, Xu Wen, Wei Xiaodong, Xu Ai′e . Efficacy and safety of an antioxidant gel containing tea polyphenols combined with narrow-band ultraviolet B in the treatment of vitiligo: a single-center randomized controlled trial [J]. Chinese Journal of Dermatology, 2025, 58(9): 834-838. |
| [12] | Zhan Jinshan, Xuan Xiuyun, Cao Juanmei, Chen Fangqi, Huang Changzheng. Progress in treatment of anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis [J]. Chinese Journal of Dermatology, 2025, 58(8): 785-788. |
| [13] | Luo Shuaihantian, Long Hai, Lu Qianjin. Research advances in systemic lupus erythematosus in 2024 [J]. Chinese Journal of Dermatology, 2025, 58(8): 777-780. |
| [14] | Bai Qi, Zhu Mingfang, Wu Qingting, Ji Xiaotian, Yang Huiyi, Ma Liping, Zhou Jiaxin. Effect of sinomenine on skin lesions in 2,4-dinitrochlorobenzene-induced atopic dermatitis-like mouse models [J]. Chinese Journal of Dermatology, 2025, 58(8): 759-766. |
| [15] | Lin Jinran, Leong Hiochon, Liu Qingmei, Wu Wenyu. Androgenetic alopecia and metabolic syndrome: from mechanisms to treatment strategies [J]. Chinese Journal of Dermatology, 2025, 58(7): 591-594. |
|