Hereditary angioedema: current therapeutic management and future approaches.
Journal
Current opinion in allergy and clinical immunology
ISSN: 1473-6322
Titre abrégé: Curr Opin Allergy Clin Immunol
Pays: United States
ID NLM: 100936359
Informations de publication
Date de publication:
14 May 2024
14 May 2024
Historique:
medline:
15
5
2024
pubmed:
15
5
2024
entrez:
14
5
2024
Statut:
aheadofprint
Résumé
The aim of this review is to provide an account of the focus of therapeutic strategies for hereditary angioedema (HAE), give a brief overview of those used in the past and set aside and toughly discuss those currently available as first line. Further research is ongoing and the future therapeutic approaches that are still in different phases of study will be reviewed as well. In the last two decades, major research advancements on HAE pathophysiology and management were made and numerous novel therapeutic options are now available. Compared to the past, drugs available nowadays are more effective, well tolerated, and possibly have a more convenient administration route. Moreover, numerous other drugs with innovative mechanisms of action are under development. HAE is a rare genetic disease that if not promptly treated, it can lead to death from asphyxiation. Furthermore, due to its disfiguring and painful manifestations, HAE implies an important burden on the quality of life. Recently, following great research progresses on HAE therapy, evidence-based guidelines on HAE management were released. The therapeutic landscape of HAE is still under florid development, and it is possible novel treatments will remarkably revolutionize HAE management in the future.
Identifiants
pubmed: 38743499
doi: 10.1097/ACI.0000000000000992
pii: 00130832-990000000-00124
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
Références
Cicardi M, Agostoni A. Hereditary angioedema. N Engl J Med 1996; 334:1666–1667.
Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol 2005; 139:379–394.
Minafra FG, Gonçalves TR, Alves TM, Pinto JA. The mortality from hereditary angioedema worldwide: a review of the real-world data literature. Clin Rev Allergy Immunol 2022; 62:232–239.
Chong-Neto HJ. A narrative review of recent literature of the quality of life in hereditary angioedema patients. World Allergy Organ J 2023; 16:100758.
Pappalardo E, Cicardi M, Duponchel C, et al. Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. J Allergy Clin Immunol 2000; 106:1147–1154.
Nordenfelt P, Nilsson M, Björkander J, et al. Hereditary angioedema in Swedish adults: report from the national cohort. Acta Derm Venereol 2016; 96:540–545.
Schöffl C, Wiednig M, Koch L, et al. Hereditary angioedema in Austria: prevalence and regional peculiarities. J Dtsch Dermatol Ges 2019; 17:416–423.
Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine 1992; 71:206–215.
Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 2006; 119:267–274.
Lepelley M, Bernardeau C, Defendi F, et al. Update on bradykinin-mediated angioedema in 2020. Therapies 2020; 75:195–205.
Maurer M, Magerl M, Betschel S, et al. The international WAO/EAACI guideline for the management of hereditary angioedema—the 2021 revision and update. Allergy 2022; 77:1961–1990.
Cicardi M, Igarashi T, Kim MS, et al. Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. J Clin Invest 1987; 80:1640–1643.
Stoppa-Lyonnet D, Tosi M, Laurent J, et al. Altered C1 inhibitor genes in type I hereditary angioedema. N Engl J Med 1987; 317:1–6.
Rosen FS, Charache P, Pensky J, Donaldson V. Hereditary angioneurotic edema: two genetic variants. Science 1965; 148:957–958.
Ponard D, Gaboriaud C, Charignon D, et al. SERPING1 mutation update: mutation spectrum and C1 Inhibitor phenotypes. Hum Mutat 2020; 41:38–57.
Cicardi M, Zuraw BL. Angioedema due to bradykinin dysregulation. J Allergy Clin Immunol Pract 2018; 6:1132–1141.
Busse PJ, Christiansen SC, Riedl MA, et al. US HAEA Medical Advisory Board 2020 Guidelines for the management of hereditary angioedema. J Allergy Clin Immunol Pract 2021; 9:132–150. e3.
Caballero T, Lleonart-Bellfill R, Pedrosa M, et al. Expert review and consensus on the treat-to-target management of hereditary angioedema: from scientific evidence to clinical practice. J Investig Allergol Clin Immunol 2023; 33:238–249.
Caballero T. Treatment of hereditary angioedema. J Investig Allergol Clin Immunol 2021; 31:1–16.
Caballero T, Maurer M, Longhurst H, et al. Triggers and prodromal symptoms of angioedema attacks in patients with hereditary angioedema. J Investig Allergol Clin Immunol 2016; 26:383–386.
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; 66:1604–1611.
Banta E, Horn P, Craig TJ. Response to ecallantide treatment of acute attacks of hereditary angioedema based on time to intervention: results from the EDEMA clinical trials. Allergy Asthma Proc 2011; 32:319–324.
Maurer M, Aberer W, Bouillet L, et al. Hereditary angioedema attacks resolve faster and are shorter after early icatibant treatment. PLoS One 2013; 8:e53773.
Bork K, Wulff K, Witzke G, et al. 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.
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; 72:320–324.
Bouillet L, Boccon-Gibod I, Gompel A, et al. Hereditary angioedema with normal C1 inhibitor: clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert®) in a French cohort. Eur J Dermatol 2017; 27:155–159.
Moldovan D, Bernstein JA, Cicardi M. Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. Immunotherapy 2015; 7:739–752.
Zuraw BL, Busse PJ, White M, et al. Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. N Engl J Med 2010; 363:513–522.
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; 126:821–827. e14.
Burnham K, Reinert JP. Thromboembolic risk of C1 esterase inhibitors: a systematic review on current evidence. Expert Rev Clin Pharmacol 2020; 13:779–786.
Hack CE, Relan A, Baboeram A, et al. Immunosafety of recombinant human C1-inhibitor in hereditary angioedema: evaluation of ige antibodies. Clin Drug Investig 2013; 33:275–281.
Cicardi M, Banerji A, Bracho F, et al. Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. N Engl J Med 2010; 363:532–541.
Maurer M, Longhurst HJ, Fabien V, et al. Treatment of hereditary angioedema with icatibant: efficacy in clinical trials versus effectiveness in the real-world setting. Allergy Asthma Proc 2014; 35:377–381.
Dubois EA, Cohen AF. Icatibant. Br J Clin Pharmacol 2010; 69:425–426.
Lehmann A. Ecallantide (DX-88), a plasma kallikrein inhibitor for the treatment of hereditary angioedema and the prevention of blood loss in on-pump cardiothoracic surgery. Expert Opin Biol Ther 2008; 8:1187–1199.
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; 104:523–529.
Cicardi M, Levy RJ, McNeil DL, et al. Ecallantide for the treatment of acute attacks in hereditary angioedema. N Engl J Med 2010; 363:523–531.
Sheffer AL, Campion M, Levy RJ, et al. Ecallantide (DX-88) for acute hereditary angioedema attacks: integrated analysis of 2 double-blind, phase 3 studies. J Allergy Clin Immunol 2011; 128:153–159. e4.
Craig T, Zuraw B, Longhurst H, et al. Long-term outcomes with subcutaneous C1-inhibitor replacement therapy for prevention of hereditary angioedema attacks. J Allergy Clin Immunol Pract 2019; 7:1793–1802. e2.
Longhurst H, Cicardi M, Craig T, et al. Prevention of hereditary angioedema attacks with a subcutaneous C1 inhibitor. N Engl J Med 2017; 376:1131–1140.
Lumry WR, Martinez-Saguer I, Yang WH, et al. Fixed-dose subcutaneous C1-inhibitor liquid for prophylactic treatment of C1-INH-HAE: SAHARA randomized study. J Allergy Clin Immunol Pract 2019; 7:1610–1618. e4.
Zuraw BL, Cicardi M, Longhurst HJ, et al. Phase II study results of a replacement therapy for hereditary angioedema with subcutaneous C1-inhibitor concentrate. Allergy 2015; 70:1319–1328.
Bernstein JA, Li HH, Craig TJ, et al. Indirect comparison of intravenous vs. subcutaneous C1-inhibitor placebo-controlled trials for routine prevention of hereditary angioedema attacks. Allergy Asthma Clin Immunol 2019; 15:13.
Banerji A, Riedl MA, Bernstein JA, et al. Effect of lanadelumab compared with placebo on prevention of hereditary angioedema attacks. JAMA 2018; 320:2108.
Banerji A, Bernstein JA, Johnston DT, et al. Long-term prevention of hereditary angioedema attacks with lanadelumab: the HELP OLE Study. Allergy 2022; 77:979–990.
Lumry WR, Weller K, Magerl M, et al. Impact of lanadelumab on health-related quality of life in patients with hereditary angioedema in the HELP study. Allergy 2021; 76:1188–1198.
Kucharczyk A, Matuszewski T, Kurowski M, et al. Real-world treatment outcomes of lanadelumab in the prevention of hereditary angioedema attacks: an interim analysis of a Polish, prospective, multicenter, observational study (CHOPIN). J Allergy Clin Immunol 2024; 153:AB9.
Hahn J, Trainotti S, Wigand M, et al. Prospective analysis in patients with HAE under prophylaxis with Lanadelumab: a real-life experience. J Drugs Dermatol 2020; 19:978–983.
Buttgereit T, Vera C, Weller K, et al. Lanadelumab efficacy, safety, and injection interval extension in HAE: a real-life study. J Allergy Clin Immunol Pract 2021; 9:3744–3751.
Hwang JR, Hwang G, Johri A, Craig T. Oral plasma kallikrein inhibitor BCX7353 for treatment of hereditary angioedema. Immunotherapy 2019; 11:1439–1444.
Aygören-Pürsün E, Bygum A, Grivcheva-Panovska V, et al. Oral plasma Kallikrein inhibitor for prophylaxis in hereditary angioedema. N Engl J Med 2018; 379:352–362.
Zuraw B, Lumry WR, Johnston DT, et al. Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: a randomized, double-blind, placebo-controlled phase 3 trial. J Allergy Clin Immunol 2021; 148:164–172. e9.
Farkas H, Stobiecki M, Peter J, et al. Long-term safety and effectiveness of berotralstat for hereditary angioedema: the open-label APeX-S study. Clin Transl Allergy 2021; 11:e12035.
Kiani-Alikhan S, Gower R, Craig T, et al. Once-daily oral berotralstat for long-term prophylaxis of hereditary angioedema: the open-label extension of the APeX-2 randomized trial. J Allergy Clin Immunol Pract 2024; 12:733–743. e10.
Ahuja M, Dorr A, Bode E, et al. Berotralstat for the prophylaxis of hereditary angioedema—real-world evidence data from the United Kingdom. Allergy 2023; 78:1380–1383.
Anderson J, Desai B, Tilley A, et al. Real-world outcomes in patients with hereditary angioedema (HAE) treated with berotralstat. J Allergy Clin Immunol 2023; 151:AB135.
Tracy J, Anderson J, Johnston D, et al. Real-world effectiveness of berotralstat in HAE with and without C1-inhibitor deficiency. J Allergy Clin Immunol 2024; 153:AB93.
Johnson F, Stenzl A, Hofauer B, et al. A retrospective analysis of long-term prophylaxis with berotralstat in patients with hereditary angioedema and acquired C1-inhibitor deficiency—real-world data. Clin Rev Allergy Immunol 2023; 65:354–364.
Magerl M, Schiffhorst G, Fanter L, et al. Patient-level indirect treatment comparison of lanadelumab versus pdC1-INH i.v. in hereditary angioedema patients: PATCH study. Allergy 2024; 79:215–224.
Watt M, Malmenäs M, Romanus D, Haeussler K. Matching-adjusted indirect treatment comparison between lanadelumab and berotralstat for hereditary angioedema prophylaxis. Ann Allergy Asthma Immunol 2022; 129:S26.
Watt M, Malmenäs M, Romanus D, Haeussler K. Network meta-analysis for indirect comparison of lanadelumab and berotralstat for the treatment of hereditary angioedema. J Comp Eff Res 2023; 12:e220188.
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, Zotter Z, Csuka D, et al. Short-term prophylaxis in hereditary angioedema due to deficiency of the C1-inhibitor – a long-term survey. Allergy 2012; 67:1586–1593.
Valerieva A, Staevska MT, Jesenak M, et al. Recombinant human C1 esterase inhibitor as short-term prophylaxis for dental procedures in patients with angioedema: a case series. J Allergy Clin Immunol 2019; 143:AB37.
Farkas H, Gyeney L, Gidófalvy E, et al. The efficacy of short-term danazol prophylaxis in hereditary angioedema patients undergoing maxillofacial and dental procedures. J Oral Maxillofac Surg 1999; 57:404–408.
Aygören-Pürsün E, Zanichelli A, Cohn DM, et al. An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: a two-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial. Lancet 2023; 401:458–469.
Riedl M, Aygoren-Pursun E, Cohn D, et al. Deucrictibant immediate-release capsule reduces time to end of progression of hereditary angioedema attacks’ manifestations. Ann Allergy Asthma Immunol 2023; 131:S38.
Maurer M, Anderson J, Aygören-Pürsün E, et al. Efficacy and safety of bradykinin B2 receptor inhibition with oral PHVS416 in treating hereditary angioedema attacks: results Of RAPIDe-1 Phase 2 trial. J Allergy Clin Immunol 2023; 151:AB134.
Craig TJ, Reshef A, Li HH, et al. Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2023; 401:1079–1090.
Bedian V, Biris N, Omer C, et al. STAR-0215 is a novel, long-acting monoclonal antibody inhibitor of plasma Kallikrein for the potential treatment of hereditary angioedema. J Pharmacol Exp Ther 2023; 387:214–225.
Crooke ST, Baker BF, Xia S, et al. Integrated assessment of the clinical performance of GalNAc3 -conjugated 2′- O -methoxyethyl chimeric antisense oligonucleotides: I. Human volunteer experience. Nucleic Acid Ther 2019; 29:16–32.
Ferrone JD, Bhattacharjee G, Revenko AS, et al. IONIS-PKK a novel antisense inhibitor of prekallikrein and bradykinin production. Nucleic Acid Ther 2019; 29:82–91.
Cohn DM, Viney NJ, Fijen LM, et al. Antisense inhibition of prekallikrein to control hereditary angioedema. N Engl J Med 2020; 383:1242–1247.
Fijen LM, Riedl MA, Bordone L, et al. Inhibition of prekallikrein for hereditary angioedema. N Engl J Med 2022; 386:1026–1033.
Smith W, Farinola N, Claeboe C, et al. HAE prophylaxis by targeting prekallikrein with siRNA- phase 1 interim safety outcomes and prekallikrein levels. Ann Allergy Asthma Immunol 2023; 131:S27.
Liu J, Qin J, Borodovsky A, et al. An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema. RNA 2019; 25:255–263.
Walsh K, Cottingham P, Shaw C, et al. CRISPR/Cas9-mediated KLKB1 gene editing and serum kallikrein reduction by NTLA-2002 remains durable in humanized mice following liver regeneration after partial hepatectomy. J Allergy Clin Immunol 2022; 149:AB169.
Longhurst HJ, Lindsay K, Petersen RS, et al. CRISPR-Cas9 in vivo gene editing of KLKB1 for hereditary angioedema. N Engl JMed 2024; 390:432–441.