Current treatment options for hereditary angioedema
Authors:
MUDr. Roman Hakl
Authors place of work:
Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny v Brně
Published in the journal:
Vnitř Lék 2016; 62(9): 736-739
Category:
Reviews
Summary
Hereditární angioedém je vzácné dominantně dědičné onemocnění způsobené deficitem inhibitoru C1-esterázy (C1-INH). Onemocnění se klinicky projevuje recidivami lokalizovaných otoků podkoží a sliznic. Nemoc je hendikepující a může být i smrtelná. Charakteristická je extrémní variabilita v četnosti a závažnosti symptomů. Článek se zabývá organizací péče o pacienty a zahrnuje aktuální léčebné možnosti onemocnění. Strategie léčby zahrnuje krátkodobou a dlouhodobou profylaxi a léčbu atak. V současné době léčebné možnosti zahrnují atenuované androgeny, antifibrinolytika, rekombinantní (rhC1-INH) a plazma derivované (pdC1-INH) C1-INH, antagonistu bradykininového receptoru a inhibitor kalikreinu. V České republice je péče od roku 2011 soustředěna do 4 diagnosticko-terapeutických center.
Klíčová slova:
bradykininový receptor – C1 inhibitor – hereditární angioedém – komplementový systém
Zdroje
1. Zuraw BL. Hereditary angioedema. N Engl J Med 2008; 359(10):1027–36. Dostupné z DOI: <http://dx.doi.org/10.1056/NEJMcp0803977>
2. Králicková P, Buresová E, Freiberger T et al. Hereditární angioedém – opomíjená diagnóza. Vnitr Lek 2010; 56(9): 927–931.
3. Nussberger J, Cugno M, Cicardi M et al. Local bradykinin generation in hereditary angioedema. J Allergy Clin Immunol 1999; 104(6): 1321–1322.
4. Caccia S, Suffritti C, Cicardi M. Pathophysiology of hereditary angioedema. Pediatr Allergy Immunol Pulmonol 2014; 27(4): 159–163.
5. Roche O, Blanch A, Duponchel C et al. Hereditary angioedema: The mutation spectrum of serping1/c1nh in a large spanish cohort. Hum Mutat 2005; 26(2): 135–144.
6. Cugno M, Zanichelli A, Foieni F et al. C1-inhibitor deficiency and angioedema: Molecular mechanisms and clinical progress. Trends Mol Med 2009; 15(2): 69–78. Dostupné z DOI:<http://dx.doi.org/10.1016/j.molmed.2008.12.001>.
7. Zanichelli A, Magerl M, Longhurst H et al. Hereditary angioedema with c1 inhibitor deficiency: Delay in diagnosis in europe. Allergy Asthma and Clin Immunol 2013; 9(1): 29. Dostupné z DOI: <http://dx.doi.org/10.1186/1710–1492–9-29>.
8. Bygum A. Hereditary angio-oedema in Denmark: A nationwide survey. Br J Dermatol 2009; 161(5): 1153–1158. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1365–2133.2009.09366.x>.
9. Hakl R, Kuklínek P, Kadlecová P et al. Hereditary angio-oedema with c1 inhibitor deficiency: Characteristics and diagnostic delay of czech patients from one centre. Allergol Immunopathol (Madr) 2016; 44(3): 241–245. Dostupné z DOI: <http://dx.doi.org/10.1016/j.aller.2015.09.003>.
10. Bork K, Hardt J, Witzke G. Fatal laryngeal attacks and mortality in hereditary angioedema due to c1-inh deficiency. J Allergy Clin Immunol 2012; 130(3): 692–697. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2012.05.055>.
11. Bork K. Current management options for hereditary angioedema. Curr Allergy Asthma Rep 2012; 12(4): 273–280. Dostupné z DOI: <http://dx.doi.org/10.1007/s11882–012–0273–4>.
12. Agostoni A, Aygoeren-Puersuen 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 2004; 114(3 Suppl): S51-S131.
13. 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 2012; 67(2): 147–157. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1398–9995.2011.02751.x>.
14. Gelfand JA, Sherins RJ, Alling DW et al. Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities. N Engl J Med 1976; 295(26): 1444–1448.
15. Agostoni A, Marasini B, Cicardi M et al. Intermittent therapy with danazol in hereditary angioedema. Lancet 1978; 1(8061): 453.
16. Cicardi M, Castelli R, Zingale LC et al. Side effects of long-term prophylaxis with attenuated androgens in hereditary angioedema: Comparison of treated and untreated patients. J Allergy Clin Immunol 1997; 99(2): 194–196.
17. 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 2008; 100(2): 153–161. Dostupné z DOI: <http://dx.doi.org/10.1016/S1081–1206(10)60424–3>.
18. Gompels MM, Lock RJ, Abinun M et al. C1 inhibitor deficiency: Consensus document. Clin Exp Immunol 2005; 139(3): 379–394. Erratum in Clin Exp Immunol 2005; 141(1): 189–90.
19. Zanichelli A, Vacchini R, Badini M et al. Standard care impact on angioedema because of hereditary c1 inhibitor deficiency: A 21-month prospective study in a cohort of 103 patients. Allergy 2011; 66(2): 192–196. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1398–9995.2010.02433.x>.
20. Brackertz D, Kueppers F. Possible therapy in hereditary angioneurotic edema (hae). Klin Wochenschr 1973; 51(12): 620–622.
21. Bork K. Pasteurized and nanofiltered, plasma-derived c1 esterase inhibitor concentrate for the treatment of hereditary angioedema. Immunotherapy 2014; 6(5): 533–551. Dostupné z DOI: <http://dx.doi.org/10.2217/imt.14.33>.
22. 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 2009; 124(4): 801–808. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2009.07.017>
23. Wasserman RL, Levy RJ, Bewtra AK et al. Prospective study of c1 esterase inhibitor in the treatment of successive acute abdominal and facial hereditary angioedema attacks. Ann Allergy Asthma Immunol 2011; 106(1): 62–68. Dostupné z DOI: <http://dx.doi.org/10.1016/j.anai.2010.10.012>.
24. Martinez-Saguer I, Rusicke E, Aygoren-Pursun E et al. Characterization of acute hereditary angioedema attacks during pregnancy and breast-feeding and their treatment with c1 inhibitor concentrate. Am J Obstet Gynecol 2010; 203(2): 131.e1–7. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ajog.2010.03.003>.
25. 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 2013; 131(3): 909–911. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2012.08.036>.
26. 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(12): 1586–1593. Dostupné z DOI: <http://dx.doi.org/10.1111/all.12032>.
27. Bork K, Staubach P, Hardt J. Treatment of skin swellings with c1-inhibitor concentrate in patients with hereditary angio-oedema. Allergy 2008; 63(6): 751–757. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1398–9995.2007.01577.x>.
28. Cicardi M, Zingale LC, Zanichelli A et al. The use of plasma-derived c1 inhibitor in the treatment of hereditary angioedema. Expert Opin Pharmacother 2007; 8(18): 3173–3181.
29. Moldovan D, Bernstein JA, Cicardi M. Recombinant replacement therapy for hereditary angioedema due to c1 inhibitor deficiency. Immunotherapy 2015; 7(7): 739–752. Dostupné z DOI: <http://dx.doi.org/10.2217/imt.15.44>. Erratum in Corrigendum. [Immunotherapy. 2015]
30. Soucie JM, Monahan PE, Kulkarni R et al. Evidence for the continued transmission of parvovirus b19 in patients with bleeding disorders treated with plasma-derived factor concentrates. Transfusion 2013; 53(5): 1143–1144. Dostupné z DOI: <http://dx.doi.org/10.1111/trf.12153>.
31. 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(4): 821–827. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaci.2010.07.021>.
32. Riedl MA, Bernstein JA, Li H et al. Recombinant human c1-esterase inhibitor relieves symptoms of hereditary angioedema attacks: Phase 3, randomized, placebo-controlled trial. Ann Allergy Asthma Immunol 2014; 112(2): 163–169.e1. Dostupné z DOI: <http://dx.doi.org/10.1016/j.anai.2013.12.004>.
33. Moldovan D, Reshef A, Fabiani J et al. Efficacy and safety of recombinant human c1-inhibitor for the treatment of attacks of hereditary angioedema: European open-label extension study. Clin Exp Allergy 2012; 42(6): 929–935. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1365–2222.2012.03984.x>.
34. Hakl R, Kuklinek P, Litzman J. Treatment of acute hereditary angioedema attacks with recombinant c1 inhibitor during pregnancy – a single case experience. Allergy 2014; 69(Suppl 99): S497.
35. 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(4): 275–281. Dostupné z DOI: <http://dx.doi.org/10.1007/s40261–013–0064–2>.
36. Cruden NL, Newby DE. Therapeutic potential of icatibant (hoe-140, je-049). Expert Opin Pharmacother 2008; 9(13): 2383–2390. Dostupné z DOI: <http://dx.doi.org/10.1517/14656566.9.13.2383>.
37. Cicardi M, Banerji A, Bracho F et al. Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. N Engl J Med 2010; 363(6): 532–541. Dostupné z DOI: <http://dx.doi.org/10.1056/NEJMoa0906393>. Erratum in N Engl J Med 2010; 363(15): 1486.
38. 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 2011; 107(6): 529–537. Dostupné z DOI: <http://dx.doi.org/10.1016/j.anai.2011.08.015>.
39. 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(5): 377–381. Dostupné z DOI: <http://dx.doi.org/10.2500/aap.2014.35.3780>.
40. Cicardi M, Levy RJ, McNeil DL et al. Ecallantide for the treatment of acute attacks in hereditary angioedema. N Engl J Med 2010; 363(6): 523–531. Dostupné z DOI: <http://dx.doi.org/10.1056/NEJMoa0905079>.
41. Levy RJ, Lumry WR, McNeil DL et al. A phase 3, double-blind study of subcutaneous ecallantide treatment for acute attacks of hereditary angioedema. Ann Allergy Asthma Immunol 2010; 104(6): 523–529. Dostupné z DOI: <http://dx.doi.org/10.1016/j.anai.2010.04.012>.
42. Stolz LE, Horn PT. Ecallantide: A plasma kallikrein inhibitor for the treatment of acute attacks of hereditary angioedema. Drugs Today (Barc) 2010; 46(8): 547–555. Dostupné z DOI: <http://dx.doi.org/10.1358/dot.2010.46.8.1507205>.
Štítky
Diabetology Endocrinology Internal medicineČlánok vyšiel v časopise
Internal Medicine
2016 Číslo 9
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