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Expert Review of Clinical Immunology Volume 9, 2013 - Issue 5
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Review

Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency

Andrea Zanichelli Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università degli Studi di Milano, Ospedale Luigi Sacco, Milan 20157, Italy. [email protected]
,
Marta Mansi Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università degli Studi di Milano, Ospedale Luigi Sacco, Milan 20157, Italy
,
Giulia Periti Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università degli Studi di Milano, Ospedale Luigi Sacco, Milan 20157, Italy
&
Marco Cicardi Dipartimento di Scienze Biomediche e Cliniche Luigi Sacco, Università degli Studi di Milano, Ospedale Luigi Sacco, Milan 20157, Italy
Pages 477-488 | Published online: 10 Jan 2014

References

  • Zuraw BL. Clinical practice. Hereditary angioedema. N. Engl. J. Med. 359(10), 1027–1036 (2008).
  • Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol. Immunol. 45(13), 3536–3544 (2008).
  • Bork K. Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor. Allergy Asthma. Clin. Immunol. 6(1), 15 (2010).
  • Binkley KE. Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions. Allergy Asthma. Clin. Immunol. 6(1), 16 (2010).
  • Bowen T, Cicardi M, Farkas H et al. Canadian 2003 international consensus algorithm for the diagnosis, therapy, and management of hereditary angioedema. J. Allergy Clin. Immunol. 114(3), 629–637 (2004).
  • Bowen T, Cicardi M, Bork K et al. Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Ann. Allergy Asthma Immunol. 100(1 Suppl. 2), S30–S40 (2008).
  • Bork K, Wulff K, Hardt J, Witzke G, Staubach P. Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy. J. Allergy Clin. Immunol. 124(1), 129–134 (2009).
  • Landerman NS, Webster ME, Becker EL, Ratcliffe HE. Hereditary angioneurotic edema. II. Deficiency of inhibitor for serum globulin permeability factor and/or plasma kallikrein. Allergy 33, 330–341 (1962).
  • Donaldson VH, Evans RR. A biochemical abnormality in herediatry angioneurotic edema: absence of serum inhibitor of C’ 1-esterase. Am. J. Med. 35, 37–44 (1963).
  • Silverman GA, Bird PI, Carrell RW et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J. Biol. Chem. 276(36), 33293–33296 (2001).
  • Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol. Med. 15(2), 69–78 (2009).
  • Davis AE 3rd. C1 inhibitor and hereditary angioneurotic edema. Annu. Rev. Immunol. 6, 595–628 (1988).
  • Davis AE 3rd. The pathophysiology of hereditary angioedema. Clin. Immunol. 114(1), 3–9 (2005).
  • Nussberger J, Cugno M, Cicardi M. Bradykinin-mediated angioedema. N. Engl. J. Med. 347(8), 621–622 (2002).
  • Nussberger J, Cugno M, Amstutz C, Cicardi M, Pellacani A, Agostoni A. Plasma bradykinin in angio-oedema. Lancet 351(9117), 1693–1697 (1998).
  • Schapira M, Silver LD, Scott CF et al. Prekallikrein activation and high-molecular-weight kininogen consumption in hereditary angioedema. N. Engl. J. Med. 308(18), 1050–1053 (1983).
  • Agostoni A, Aygören-Pürsün E, Binkley KE et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J. Allergy Clin. Immunol. 114(Suppl. 3), S51–S131 (2004).
  • Zanichelli A, Vacchini R, Badini M, Penna V, Cicardi M. Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. Allergy 66(2), 192–196 (2011).
  • Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicians. Arch. Intern. Med. 161(20), 2417–2429 (2001).
  • Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am. J. Med. 119(3), 267–274 (2006).
  • Bork K, Ressel N. Sudden upper airway obstruction in patients with hereditary angioedema. Transfus. Apher. Sci. 29(3), 235–238 (2003).
  • Longhurst HJ, Farkas H, Craig T et al. HAE international home therapy consensus document. Allergy Asthma. Clin. Immunol. 6(1), 22 (2010).
  • Cicardi M, Zanichelli A. Angioedema due to C1 inhibitor deficiency in 2010. Intern. Emerg. Med. 5(6), 481–486 (2010).
  • Bowen T, Cicardi M, Farkas H et al. 2010 International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema. Allergy Asthma. Clin. Immunol. 6(1), 24 (2010).
  • Bork K, Barnstedt SE. Treatment of 193 episodes of laryngeal edema with C1 inhibitor concentrate in patients with hereditary angioedema. Arch. Intern. Med. 161(5), 714–718 (2001).
  • Berinert® (C1 esterase inhibitor, human), summary of product characteristics. CSL Behring GmbH, Marburg, Germany.
  • Farkas H, Csuka D, Zotter Z et al. Treatment of attacks with plasma-derived C1-inhibitor concentrate in pediatric hereditary angioedema patients. J. Allergy Clin. Immunol. 131(3), 909–911.e5 (2013).
  • Czaller I, Visy B, Csuka D, Füst G, Tóth F, Farkas H. The natural history of hereditary angioedema and the impact of treatment with human C1-inhibitor concentrate during pregnancy: a long-term survey. Eur. J. Obstet. Gynecol. Reprod. Biol. 152(1), 44–49 (2010).
  • Chinniah N, Katelaris CH. Hereditary angioedema and pregnancy. Aust. N. Z. J. Obstet. Gynaecol. 49(1), 2–5 (2009).
  • Craig TJ, Levy RJ, Wasserman RL et al. Efficacy of human C1 esterase inhibitor concentrate compared with placebo in acute hereditary angioedema attacks. J. Allergy Clin. Immunol. 124(4), 801–808 (2009).
  • 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 66(12), 1604–1611 (2011).
  • Kreuz W, Rusicke E, Martinez-Saguer I, Aygören-Pürsün E, Heller C, Klingebiel T. Home therapy with intravenous human C1-inhibitor in children and adolescents with hereditary angioedema. Transfusion 52(1), 100–107 (2012).
  • Bygum A, Andersen KE, Mikkelsen CS. Self-administration of intravenous C1-inhibitor therapy for hereditary angioedema and associated quality of life benefits. Eur. J. Dermatol. 19(2), 147–151 (2009).
  • Tourangeau LM, Castaldo AJ, Davis DK, Koziol J, Christiansen SC, Zuraw BL. Safety and efficacy of physician-supervised self-managed C1 inhibitor replacement therapy. Int. Arch. Allergy Immunol. 157(4), 417–424 (2012).
  • Cinryze® (C1 esterase inhibitor [human]), summary of product characteristics. ViroPharma Inc., PA, USA.
  • Zuraw BL, Busse PJ, White M et al. Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. N. Engl. J. Med. 363(6), 513–522 (2010).
  • Landmesser LM, Tillotson G, Mariano D. Site of care of nanofiltered C1 esterase inhibitor [human] (Cinryze) in patients with hereditary angioedema (HAE). Ann Allergy Asthma Immunol. 105, A113 (2010).
  • Ruconest® (conestat alfa), summary of product characteristics. Pharming Group NV, Leiden, The Netherlands.
  • 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. 126(4), 821–827.e14 (2010).
  • Gröner A, Nowak T, Schäfer W. Pathogen safety of human C1 esterase inhibitor concentrate. Transfusion 52(10), 2104–2112 (2012).
  • German Medical Profession’s Drugs Committee. Severe thrombus formation of Berinert HS. Deutsches Ärzteblatt 97, B-864 (2000).
  • Gandhi PK, Gentry WM, Bottorff MB. Thrombotic events associated with C1 esterase inhibitor products in patients with hereditary angioedema: investigation from the United States Food and Drug Administration adverse event reporting system database. Pharmacotherapy 32(10), 902–909 (2012).
  • Firazyr® (icatibant), summary of product characteristics. Shire plc., St Helier, Jersey.
  • Cicardi M, Banerji A, Bracho F et al. Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. N. Engl. J. Med. 363(6), 532–541 (2010).
  • Lumry WR, Li HH, Levy RJ et al. Randomized placebo-controlled trial of the bradykinin B2 receptor antagonist icatibant for the treatment of acute attacks of hereditary angioedema: the FAST-3 trial. Ann. Allergy Asthma Immunol. 107(6), 529–537 (2011).
  • Bas M, Bier H, Greve J, Kojda G, Hoffmann TK. Novel pharmacotherapy of acute hereditary angioedema with bradykinin B2-receptor antagonist icatibant. Allergy 61(12), 1490–1492 (2006).
  • Malbrán A, Di Marco P, Romero F. Treatment of hereditary angioedema with icatibant. Report of 163 attacks. Presented at: 6th European C1 Inhibitor Deficiency Workshop. Budapest, Hungary, 22–24 May 2009.
  • Kalbitor® (ecallantide), package insert. Dyax Corp., MA, USA.
  • Sheffer AL, Campion M, Levy RJ, Li HH, Horn PT, Pullman WE. Ecallantide (DX-88) for acute hereditary angioedema attacks: integrated analysis of 2 double-blind, Phase 3 studies. J. Allergy Clin. Immunol. 128(1), 153–159.e4 (2011).
  • Craig T, Riedl M, Dykewicz MS et al. When is prophylaxis for hereditary angioedema necessary? Ann. Allergy Asthma Immunol. 102(5), 366–372 (2009).
  • Frank MM, Sergent JS, Kane MA, Alling DW. Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. N. Engl. J. Med. 286(15), 808–812 (1972).
  • Gelfand JA, Sherins RJ, Alling DW, Frank MM. Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities. N. Engl. J. Med. 295(26), 1444–1448 (1976).
  • Sheffer AL, Austen KF, Rosen FS. Tranexamic acid therapy in hereditary angioneurotic edema. N. Engl. J. Med. 287(9), 452–454 (1972).
  • Sheffer AL, Fearon DT, Austen KF. Methyltestosterone therapy in hereditary angioedema. Ann. Intern. Med. 86(3), 306–308 (1977).
  • Waytes AT, Rosen FS, Frank MM. Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. N. Engl. J. Med. 334(25), 1630–1634 (1996).
  • Bork K, Bygum A, Hardt J. Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. Ann. Allergy Asthma Immunol. 100(2), 153–161 (2008).
  • Cicardi M, Bergamaschini L, Cugno M, Hack E, Agostoni G, Agostoni A. Long-term treatment of hereditary angioedema with attenuated androgens: a survey of a 13-year experience. J. Allergy Clin. Immunol. 87(4), 768–773 (1991).
  • Craig TJ. Appraisal of danazol prophylaxis for hereditary angioedema. Allergy Asthma Proc. 29(3), 225–231 (2008).
  • Blohmé G. Treatment of hereditary angioneurotic oedema with tranexamic acid. A random double-blind cross-over study. Acta Med. Scand. 192(4), 293–298 (1972).
  • Farkas H. Management of upper airway edema caused by hereditary angioedema. Allergy Asthma. Clin. Immunol. 6(1), 19 (2010).
  • Gompels MM, Lock RJ, Abinun M et al. C1 inhibitor deficiency: consensus document. Clin. Exp. Immunol. 139(3), 379–394 (2005).
  • Farkas H, Varga L, Széplaki G, Visy B, Harmat G, Bowen T. Management of hereditary angioedema in pediatric patients. Pediatrics 120(3), e713–e722 (2007).
  • Bowen T. Review of consensus approaches to the diagnosis, therapy, and management of hereditary angioedema circa 2009. Immunology Allergy Clin. NA (2010) (In Press).
  • Dunn CJ, Goa KL. Tranexamic acid: a review of its use in surgery and other indications. Drugs 57(6), 1005–1032 (1999).
  • Berntorp E, Follrud C, Lethagen S. No increased risk of venous thrombosis in women taking tranexamic acid. Thromb. Haemost. 86(2), 714–715 (2001).
  • Lindoff C, Rybo G, Astedt B. Treatment with tranexamic acid during pregnancy, and the risk of thrombo-embolic complications. Thromb. Haemost. 70(2), 238–240 (1993).
  • Henry DA, Carless PA, Moxey AJ et al. Anti-fibrinolytic use for minimising perioperative allogeneic blood transfusion. Cochrane Database Syst. Rev. 4, CD001886 (2007).
  • Uozaki Y, Watanabe G, Kotou K, Ueyama K, Doi Y, Misaki T. Effect of tranexamic acid on blood loss reduction after cardiopulmonary bypass. Jpn J. Thorac. Cardiovasc. Surg. 49(5), 273–278 (2001).
  • Günaldi M, Helvaci A, Yildirim ND, Kiskaç M, Küçükkaya RD. Acute myocardial infarction in a patient with hemophilia A and factor V Leiden mutation. Cardiol. J. 16(5), 458–461 (2009).
  • Sundström A, Seaman H, Kieler H, Alfredsson L. The risk of venous thromboembolism associated with the use of tranexamic acid and other drugs used to treat menorrhagia: a case–control study using the General Practice Research Database. BJOG 116(1), 91–97 (2009).
  • Farkas H, Jakab L, Temesszentandrási G et al. Hereditary angioedema: a decade of human C1-inhibitor concentrate therapy. J. Allergy Clin. Immunol. 120(4), 941–947 (2007).
  • Farkas H, Csuka D, Zotter Z, Varga L, Fust G. Prophylactic therapy in children with hereditary angioedema. J. Allergy Clin. Immunol. 131(2), 579–582 (2013).
  • Levi M, Choi G, Picavet C, Hack CE. Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency. J. Allergy Clin. Immunol. 117(4), 904–908 (2006).
  • Bork K, Hardt J. Hereditary angioedema: long-term treatment with one or more injections of C1 inhibitor concentrate per week. Int. Arch. Allergy Immunol. 154(1), 81–88 (2011).
  • Reshef A, Moldovan D, Obtulowicz K et al. Recombinant human C1 inhibitor for the prophylaxis of hereditary angioedema attacks: a pilot study. Allergy 68(1), 118–124 (2013).
  • 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. 112(1), 58–64 (2011).
  • Bork K, Barnstedt SE. Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. J. Am. Dent. Assoc. 134(8), 1088–1094 (2003).
  • Chenoweth DE, Cooper SW, Hugli TE, Stewart RW, Blackstone EH, Kirklin JW. Complement activation during cardiopulmonary bypass: evidence for generation of C3a and C5a anaphylatoxins. N. Engl. J. Med. 304(9), 497–503 (1981).
  • Bonser RS, Dave JR, John L et al. Complement activation before, during and after cardiopulmonary bypass. Eur. J. Cardiothorac. Surg. 4(6), 291–296 (1990).
  • Bonser RS, Dave J, Morgan J et al. Complement activation during bypass in acquired C1 esterase inhibitor deficiency. Ann. Thorac. Surg. 52(3), 541–543 (1991).
  • Lumry WR, Busse P, Baker J et al. Pre-procedure administration of C1 esterase inhibitor (human) (Cinryze) for the prevention of hereditary angioedema (HAE) attacks after medical, dental, or surgical procedures. Presented at: Annual Meeting of the American Academy of Allergy, Asthma & Immunology. San Francisco, CA, USA, 18–22 March 2011 (Abstract 903).
  • 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 67(12), 1586–1593 (2012).
  • Kaplan AP, Joseph K. The bradykinin-forming cascade and its role in hereditary angioedema. Ann. Allergy Asthma Immunol. 104(3), 193–204 (2010).
  • Cicardi M, Bork K, Caballero T et al.; HAWK (Hereditary Angioedema International Working Group). Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. Allergy 67(2), 147–157 (2012).
  • Levi M, Choi G, Picavet C, Hack CE. Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency. J. Allergy Clin. Immunol. 117(4), 904–908 (2006).
  • Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Heller C, Klingebiel T. C1-inhibitor concentrate for individual replacement therapy in patients with severe hereditary angioedema refractory to danazol prophylaxis. Transfusion 49(9), 1987–1995 (2009).
  • Sexton D, Faucette R, Viswanathan M et al. Discovery and characterization of a fully human monoclonal antibody inhibitor of plasma kallikrein for the treatment of plasma kallikrein-mediated edema. Presented at: Annual Meeting of the American Academy of Allergy, Asthma & Immunology. San Antonio, TX, USA, 22–26 February 2013.
  • Bantia S, Zhang J, Wilson R et al. BCX4161, a small molecule orally bioavailable plasma kallikrein inhibitor for the treatment of hereditary angioedema. Presented at: Annual Meeting of the American Academy of Allergy, Asthma & Immunology. San Antonio, TX, USA, 22–26 February 2013.
  • No authors listed. Three new drugs for hereditary angioedema. Med. Lett. Drugs Ther. 23, 66–67 (2010).

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