PL EN


Preferences help
enabled [disable] Abstract
Number of results
2018 | 23 | 4 | 175-185
Article title

Hereditary angioedema: treatment options and availability. Balance between patients’ needs and stakeholders’ plans

Content
Title variants
PL
Opcje terapeutyczne i ich dostępność we wrodzonym obrzęku naczynioruchowym: pomiędzy potrzebami pacjentów a planami decydentów
Languages of publication
EN PL
Abstracts
EN
Hereditary angioedema is a rare and disabling disease characterized by severe, acute, self- limiting edema of the subcutaneous and mucosal tissue. The disease carries significant mortality when the upper airways are involved. It is determined by a transient dysregulation in vascular permeability with a sudden increase in fluid extravasation. The most common genetic defects recognized on the SERPING1 gene leads to complement C1-inhibitor deficiency (C1-INH-HAE). In the last few years mutation on the factor XII gene, the angiopoietin, and the plasminogen genes were recognized to cause angioedema with normal C1-INH levels (nC1-INH-HAE). However, it is not uncommon to have family history of angioedema and unknown genetic defect. The burden of the disease on the individual patients is unpredictable since the number, location and severity of the attacks spans from silent disease to an extremely high number of attacks during lifetime. Nowadays effective and safe treatment for the C1-INH-HAE forms are available and new drugs are under investigation both for the on demand therapy and for the prophylaxis of the attacks. Acute treatments has been proved to reduce severity and duration of attack, prophylaxis reduces the number of attacks thus positively affecting the quality of life and reducing the indirect costs of the disease. Unfortunately, the costs of the medications are high limiting the accessibility and availability of treatment in different countries. This paper reviews the treatment options and the differences in the availability of the medications in three European countries, with practical suggestions for the management of the disease.
PL
Wrodzony obrzęk naczynioruchowy jest rzadką, upośledzającą funkcjonowanie chorobą chrakteryzującą się ciężkimi, ostrymi, samoograniczającymi się obrzękami tkanki podskórnej i podśluzówkowej. W przypadku zajęcia górnych dróg oddechowych, schorzenie obarczona jest znaczącą śmiertelnością. Choroba jest determinowana przejściową dysregulacją przepuszczalności naczyniowej ze nagłym wzrostem ilości wynaczynionego płynu. Najczęściej spotykane defekty genetyczne występujące w genie SERPING1 prowadzą do niedoboru inhibitora składowej C1 układu dopełniacza (C1-INH-HAE). W ostatnich kilku latach poznano mutację genów czynnika XII, angiopoetyny i plazminogenu powodujące obrzęk naczynioruchowy z prawidłowym poziomem C1-INH (HAEnC1-INH). Jednakże, nie jest sytuacją niezwykłą występowanie rodzinnego wywiadu w kierunku obrzęku przy nieznanym defekcie genetycznym. Obciążenia związane z chorobą u poszczególnych pacjentów są trudne do przewidzenia, ponieważ liczba, lokalizacja i ciężkość napadów w ciągu życia zmienia się: od okresów remisji, do okresów ze skrajnie częstymi objawami. Obecnie dostępne są skuteczne i bezpieczne formy leczenia C1-INH-HAE, a w trakcie badań są nowe leki, zarówno do doraźnej, jaki i profilaktycznej terapii napadów obrzęku. Leki stosowane w stanach ostrych mają potwierdzone dzia- łanie zmniejszające ciężkość i czas trwania napadów, a leki stosowane w profilaktyce zmniejszają częstość napadów wpływając pozytywnie na jakość życia i redukując pośrednie koszty choroby. Niestety koszty leczenia są wysokie i ograniczają jego dostępność w wielu krajach. W niniejszej pracy dokonano przeglądu możliwych opcji terapeutycznych i ich dostępności w trzech krajach europejskich, poszerzonego o praktyczne sugestie dotyczące leczenia choroby.
Discipline
Publisher

Year
Volume
23
Issue
4
Pages
175-185
Physical description
Contributors
  • Clinical Centre of Allergology, University Hospital “Alexandrovska”, Medical University of Sofia, Bulgaria
  • IRCCS Istituti Clinici Scientifici Maugeri, Italy
  • Department of Clinical and Environmental Allergology, Jagiellonian University Medical College, Krakow, Poland
  • Clinical Centre of Allergology, University Hospital “Alexandrovska”, Medical University of Sofia, Bulgaria
author
  • Department of Biomedical and Clinical Sciences, University of Milan, Luigi Sacco Hospital, Milan, Italy
References
  • 1. Frank M. Urticaria and angioedema. (in) Goldman L, Bennett JC, eds. Cecil Textbook of Medicine. 21st edn. Philadelphia, PA, USA, 2000.
  • 2. Talavera A, Larraona JL, Ramos JL, et al. Hereditary angioedema: an infrequent cause of abdominal pain with ascites. Am J Gastroenterol 1995; 90: 471-4.
  • 3. 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: 135-44.
  • 4. Bygum A. Hereditary angio-oedema in Denmark: a nationwide survey. Br J Dermatol 2009; 161: 1153-8.
  • 5. Zanichelli A, Arcoleo F, Barca MP, et al. A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. Orphanet J Rare Dis 2015; 10: 11.
  • 6. Moreno AS, Valle SO, Levy S, et al. Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor. Int Arch Allergy Immunol 2015; 166: 114-20.
  • 7. Bafunno V, Firinu D, D'Apolito M, et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immunol 2018; 141: 1009-17.
  • 8. Bork K, Wulff K, Steinmuller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy 2018; 73: 442- 50.
  • 9. Kaplan AP, Joseph K. The bradykinin-forming cascade and its role in hereditary angioedema. Ann Allergy Asthma Immunol 2010; 104: 193-204.
  • 10. 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. Allergy 2014; 69: 602-16.
  • 11. Aygoren-Pursun E, Bygum A, Beusterien K, et al. Socioeconomic burden of hereditary angioedema: results from the hereditary angioedema burden of illness study in Europe. Orphanet J Rare Dis 2014; 9: 99.
  • 12. Banerji A, Busse P, Christiansen SC, et al. Current state of hereditary angioedema management: a patient survey. Allergy Asthma Proc 2015; 36: 213-7.
  • 13. Lumry WR. Hereditary Angioedema: The Economics of Treatment of an Orphan Disease. Front Med (Lausanne) 2018; 5: 22.
  • 14. 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. BMJ Open 2018; 8: e022291.
  • 15. Bork K, Bernstein JA, Machnig T, Craig TJ. Efficacy of Different Medical Therapies for the Treatment of Acute Laryngeal Attacks of Hereditary Angioedema due to C1-esterase Inhibitor Deficiency. J Emerg Med 2016; 50: 567-80 e1.
  • 16. 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: 801-8.
  • 17. Zuraw BL, Busse PJ, White M, et al. Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. N Engl J Med 2010; 363: 513-22.
  • 18. Bork K, Frank J, Grundt B, et al. Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). J Allergy Clin Immunol 2007; 119: 1497-503.
  • 19. Cicardi M, Banerji A, Bracho F, et al. Icatibant, a new bradykinin- -receptor antagonist, in hereditary angioedema. New Eng J Med 2010; 363: 532-41.
  • 20. 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: 821-7.e14.
  • 21. Cicardi M, Levy RJ, McNeil DL, et al. Ecallantide for the treatment of acute attacks in hereditary angioedema. N Engl J Med 2010; 363: 523-31.
  • 22. Prematta M, Gibbs JG, Pratt EL, et al. Fresh frozen plasma for the treatment of hereditary angioedema. Ann Allergy Asthma Immunol 2007; 98: 383-8.
  • 23. Lunn M, Santos C, Craig T. Cinryze as the first approved C1 inhibitor in the USA for the treatment of hereditary angioedema: approval, efficacy and safety. J Blood Med 2010; 1: 163-70.
  • 24. Aygoren-Pursun E, Bygum A, Grivcheva-Panovska V, et al. Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema. N Engl J Med 2018; 379: 352-62.
  • 25. https://globenewswire.com/news-release/2018/09/04/1564738/0/ en/BioCryst-Reports-Positive-Results-Across-Multiple-Endpoints-in- -ZENITH-1-Trial-of-Oral-BCX7353-as-Acute-Therapy-for-Hereditary- -Angioedema-HAE-Attacks.html.
  • 26. Feener EP, Murugesan N, Robson PA, et al. KVD900 protects high molecular weight kininogen (HK) from ex vivo plasma kallikrein mediated cleavage in plasma from patients with hereditary angioedema (HAE): Results from a semi-automated capillary-based immunoassay. EAACI 2018, May 26-30 Munich.
  • 27. Craig T, Busse P, Gower RG, et al. Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency. Ann Allergy Asthma Immunol 2018; S1081-1206(18)30611-2.
  • 28. Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992; 71: 206-15.
  • 29. Lumry WR, Castaldo AJ, Vernon MK, et al. The humanistic burden of hereditary angioedema: Impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc 2010; 31: 407- 14.
  • 30. Bowen T. Hereditary angioedema: beyond international consensus - circa December 2010 - The Canadian Society of Allergy and Clinical Immunology Dr. David McCourtie Lecture. Allergy Asthma Clin Immunol 2011; 7: 1.
  • 31. Spaulding WB. Methyltestosterone therapy for hereditary episodic edema (hereditary angioneurotic edema). Ann Intern Med 1960; 53: 739-45.
  • 32. Cicardi M, Mannucci PM, Castelli R, et al. Reduction in transmission of hepatitis C after the introduction of a heat-treatment step in the production of C1-inhibitor concentrate. Transfusion 1995; 35: 209- 12.
  • 33. Kunschak M, Engl W, Maritsch F, et al. A randomized, controlled trial to study the efficacy and safety of C1 inhibitor concentrate in treating hereditary angioedema. Transfusion 1998; 38: 540-9.
  • 34. Prematta MJ, Prematta T, Craig TJ. Treatment of hereditary angioedema with plasma-derived C1 inhibitor. Ther Clin Risk Manag 2008; 4: 975-82.
  • 35. 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: 3173-81.
  • 36. Bork K, Hardt J. Hereditary angioedema: long-term treatment with one or more injections of C1 inhibitor concentrate per week. Int Arch Allergy Immunol 2011; 154: 81-8.
  • 37. 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 2009; 19: 147-51.
  • 38. Longhurst H, Cicardi M, Craig T, et al. Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor. N Engl J Med 2017; 376: 1131-40.
  • 39. Banerji A, Busse P, Shennak M, et al. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis. N Engl J Med 2017; 376: 717- 28.
  • 40. Qiu T, Chiuchiolo MJ, Whaley AS, et al. Gene Therapy for C1 Esterase Inhibitor Deficiency in a Murine Model of Hereditary Angioedema. Allergy 2018; doi: 10.1111/all.13582.
  • 41. http://investors.adverum.com/news-releases/news-release-details/ adverum-biotechnologies-provides-program-updates
  • 42. Agostoni A, Cicardi M, Martignoni GC, et al. Danazol and stanozolol in long-term prophylactic treatment of hereditary angioedema. J Allergy Clin Immunol 1980; 65: 75-9.
  • 43. Cicardi M, Bergamaschini L, Cugno M, et al. Long-term treatment of hereditary angioedema with attenuated androgens: a survey of a 13-year experience. J Allergy Clin Immunol 1991; 87: 768-73.
  • 44. Cicardi M, Bergamaschini L, Tucci A, et al. Morphologic evaluation of the liver in hereditary angioedema patients on long-term treatment with androgen derivatives. J Allergy Clin Immunol 1983; 72: 294-8.
  • 45. Cicardi M, Castelli R, Zingale LC, Agostoni A. Side effects of longterm prophylaxis with attenuated androgens in hereditary angioedema: comparison of treated and untreated patients. J Allergy Clin Immunol 1997; 99: 194-6.
  • 46. Zuraw BL, Davis DK, Castaldo AJ, Christiansen SC. Tolerability and Effectiveness of 17-alpha-Alkylated Androgen Therapy for Hereditary Angioedema: A Re-examination. J Allergy Clin Immunol Pract 2016; 4: 948-55 e15.
  • 47. Agostoni A, Marasini B, Cicardi M, et al. Hepatic function and fibrinolysis in patients with hereditary angioedema undergoing longterm treatment with tranexamic acid. Allergy 1978; 33: 216-21.
  • 48. Zanichelli A, Wu MA, Andreoli A, et al. The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. Expert Opin Drug Saf 2015: 1-12.
  • 49. Craig T, Shapiro R, Vegh A, et al. Efficacy and safety of an intravenous C1-inhibitor concentrate for long-term prophylaxis in hereditary angioedema. Allergy Rhinol (Providence) 2017; 8: 13-9.
  • 50. Riedl MA, Bygum A, Lumry W, et al. Safety and Usage of C1-Inhibitor in Hereditary Angioedema: Berinert Registry Data. J Allergy Clin Immunol Pract 2016; 4: 963-71.
  • 51. Cancian M. Diagnostic and therapeutic management of hereditary angioedema due to C1-inhibitor deficiency: the Italian experience. Curr Opin Allergy Clin Immunol 2015; 15: 383-91.
  • 52. Bork K. Pasteurized and nanofiltered, plasma-derived C1 esterase inhibitor concentrate for the treatment of hereditary angioedema. Immunotherapy 2014; 6: 533-51.
  • 53. Botnaru T, Robert A, Mottillo S. Icatibant Compared to Steroids and Antihistamines for ACE-Inhibitor-Induced Angioedema. CJEM 2017; 19: 159-62.
  • 54. 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 Allergy Clin Immunol 2012; 129: 308-20.
  • 55. Marasini B, Cicardi M, Martignoni GC, Agostoni A. Treatment of hereditary angioedema. Klin Wochenschr 1978; 56: 819-23.
  • 56. Vogelaar EF, Brummelhuis HG, Krijnen HW. Contributions to the optimal use of human blood. 3. Large-scale preparation of human c1 esterase inhibitor concentrate for clinical use. Vox Sang 1974; 26: 118-27.
  • 57. Gadek JE, Hosea SW, Gelfand JA, et al. Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. N Engl J Med 1980; 302: 542-6.
  • 58. Madaliński K, Obtułowicz K. Historia badań i organizacji leczenia chorych z wrodzonym obrzękiem naczynioruchowym - HAE w Polsce. Alergol Immunol 2013; 10: 5-8.
  • 59. Bozhkov B, Nikolov K, Baleva M. [Familial studies of patients with hereditary angioedema]. Vutr Boles 1988; 27: 62-5.
  • 60. Longhurst H, Bygum A. The Humanistic, Societal, and Pharmaco-economic Burden of Angioedema. Clin Rev Allergy Immunol 2016; 51: 230-9.
  • 61. Caballero T, Aygoren-Pursun E, Bygum A, et al. The humanistic burden of hereditary angioedema: results from the Burden of Illness Study in Europe. Allergy Asthma Proc 2014; 35: 47-53.
Document Type
article
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.psjd-a3bda4a6-a4c7-47c6-8f38-053ce1cec964
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.