Наследствен ангиоедем
Keywords:
наследствен ангиоедем, С1-инхибитор
Abstract
Наследственият ангиоедем (НАЕ) е заболяване, характеризиращо се с рецидивиращи пристъпи на ангиоедем, засягащи най-често кожата или мукозата на горни дихателни пътища или гастроинтестиналния тракт. Унаследява се автозомно-доминантно и е резултат от мутация в гена SERPING1, кодиращ С1-инхибитора. Отокът, който се наблюдава при НАЕ, е резултат от ексцесивна продукция на брадикинин, потентен медиатор на вазодилатация. Два са основните типа НАЕ – тип I с дефицит на С1-инхибитор (съставляващ около 85% от случаите) и тип II с дисфункция на С1-инхибитор (наблюдаван в около 15% от случаите). Съществува и форма на НАЕ с нормални нива и функция на С1-инхибитор.
Диагностицирането на НАЕ изисква наличие на ниско ниво на С4 фракция на комплемента плюс намалена концентрация и/или функция на С1-инхибитора. Съществуват три групи лекарства за НАЕ – такива за терапия при нужда, такива за краткосрочна профилактика и такива за дългосрочна профилактика на пристъпите. Изключителният напредък в терапията на НАЕ предоставя все по-добро качество на живот на пациентите.
References
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Bowen B, Hawk JJ, Sibunka S, et al. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol. 2001 Feb;98(2):157-63.
Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017 Jun;136(6):665-677.
Kalmár L, Hegedüs T, Farkas H, et al. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005 Jan;25(1):1-5.
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 Dec;106(6):1147-54.
Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore). 1992 Jul;71(4):206-15.
Davis AE 3rd. The pathophysiology of hereditary angioedema. Clin Immunol. 2005 Jan;114(1):3-9.
Kaplan AP, Joseph K. The bradykinin-forming cascade and its role in hereditary angioedema. Ann Allergy Asthma Immunol. 2010 Mar;104(3):193-204.
van Geffen M, Cugno M, Lap P, et al. Alterations of coagulation and fibrinolysis in patients with angioedema due to C1-inhibitor deficiency. Clin Exp Immunol. 2012 Mar;167(3):472-8.
Cugno M, Cicardi M, Coppola R, et al. Activation of factor XII and cleavage of high molecular weight kininogen during acute attacks in hereditary and acquired C1-inhibitor deficiencies. Immunopharmacology. 1996 Jun;33(1-3):361-4.
Cicardi M, Aberer W, Banerji A, et al. HAWK under the patronage of EAACI (European Academy of Allergy and Clinical Immunology). Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy. 2014 May;69(5):602-16.
Bork K, Barnstedt SE, Koch P, et al. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000 Jul 15;356(9225):213-7.
Bork K, Machnig T, Wulff K, et al. Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence. Orphanet J Rare Dis. 2020 Oct 15;15(1):289.
Bork K, Meng G, Staubach P, et al. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med. 2006 Mar;119(3):267-74.
Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol. 2005 Mar;139(3):379-94.
Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore). 1992 Jul;71(4):206-15.
Reshef A, Prematta MJ, Craig TJ. Signs and symptoms preceding acute attacks of hereditary angioedema: results of three recent surveys. Allergy Asthma Proc. 2013 May-Jun;34(3):261-6.
Bork K, Hardt J, Schicketanz KH, et al. Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. Arch Intern Med. 2003 May 26;163(10):1229-35.
Bork K, Siedlecki K, Bosch S, et al. Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc. 2000 Apr;75(4):349-54.
Farkas H. Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):18.
Nzeako UC, Longhurst HJ. Many faces of angioedema: focus on the diagnosis and management of abdominal manifestations of hereditary angioedema. Eur J Gastroenterol Hepatol. 2012 Apr;24(4):353-61.
Bork K, Staubach P, Eckardt AJ, et al. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006 Mar;101(3):619-27.
Brickman CM, Tsokos GC, Balow JE, et al. Immunoregulatory disorders associated with hereditary angioedema. I. Clinical manifestations of autoimmune disease. J Allergy Clin Immunol. 1986 May;77(5):749-57.
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. 2004 Sep;114(3 Suppl):S51-131.
Bork K, Fischer B, Dewald G. Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy. Am J Med. 2003 Mar;114(4):294-8.
Ricketti AJ, Cleri DJ, Ramos-Bonner LS, et al. Hereditary angioedema presenting in late middle age after angiotensin-converting enzyme inhibitor treatment. Ann Allergy Asthma Immunol. 2007 Apr;98(4):397-401.
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 Jul;77(7):1961-1990. doi: 10.1111/all.15214. Epub 2022 Feb 3. PMID: 35006617.
Frank MM, Gelfand JA, Atkinson JP. Hereditary angioedema: the clinical syndrome and its management. Ann Intern Med. 1976 May;84(5):580-93.
Bowen B, Hawk JJ, Sibunka S, et al. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol. 2001 Feb;98(2):157-63.
Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017 Jun;136(6):665-677.
Kalmár L, Hegedüs T, Farkas H, et al. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005 Jan;25(1):1-5.
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 Dec;106(6):1147-54.
Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore). 1992 Jul;71(4):206-15.
Davis AE 3rd. The pathophysiology of hereditary angioedema. Clin Immunol. 2005 Jan;114(1):3-9.
Kaplan AP, Joseph K. The bradykinin-forming cascade and its role in hereditary angioedema. Ann Allergy Asthma Immunol. 2010 Mar;104(3):193-204.
van Geffen M, Cugno M, Lap P, et al. Alterations of coagulation and fibrinolysis in patients with angioedema due to C1-inhibitor deficiency. Clin Exp Immunol. 2012 Mar;167(3):472-8.
Cugno M, Cicardi M, Coppola R, et al. Activation of factor XII and cleavage of high molecular weight kininogen during acute attacks in hereditary and acquired C1-inhibitor deficiencies. Immunopharmacology. 1996 Jun;33(1-3):361-4.
Cicardi M, Aberer W, Banerji A, et al. HAWK under the patronage of EAACI (European Academy of Allergy and Clinical Immunology). Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy. 2014 May;69(5):602-16.
Bork K, Barnstedt SE, Koch P, et al. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000 Jul 15;356(9225):213-7.
Bork K, Machnig T, Wulff K, et al. Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence. Orphanet J Rare Dis. 2020 Oct 15;15(1):289.
Bork K, Meng G, Staubach P, et al. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med. 2006 Mar;119(3):267-74.
Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol. 2005 Mar;139(3):379-94.
Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore). 1992 Jul;71(4):206-15.
Reshef A, Prematta MJ, Craig TJ. Signs and symptoms preceding acute attacks of hereditary angioedema: results of three recent surveys. Allergy Asthma Proc. 2013 May-Jun;34(3):261-6.
Bork K, Hardt J, Schicketanz KH, et al. Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. Arch Intern Med. 2003 May 26;163(10):1229-35.
Bork K, Siedlecki K, Bosch S, et al. Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc. 2000 Apr;75(4):349-54.
Farkas H. Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):18.
Nzeako UC, Longhurst HJ. Many faces of angioedema: focus on the diagnosis and management of abdominal manifestations of hereditary angioedema. Eur J Gastroenterol Hepatol. 2012 Apr;24(4):353-61.
Bork K, Staubach P, Eckardt AJ, et al. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006 Mar;101(3):619-27.
Brickman CM, Tsokos GC, Balow JE, et al. Immunoregulatory disorders associated with hereditary angioedema. I. Clinical manifestations of autoimmune disease. J Allergy Clin Immunol. 1986 May;77(5):749-57.
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. 2004 Sep;114(3 Suppl):S51-131.
Bork K, Fischer B, Dewald G. Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy. Am J Med. 2003 Mar;114(4):294-8.
Ricketti AJ, Cleri DJ, Ramos-Bonner LS, et al. Hereditary angioedema presenting in late middle age after angiotensin-converting enzyme inhibitor treatment. Ann Allergy Asthma Immunol. 2007 Apr;98(4):397-401.
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 Jul;77(7):1961-1990. doi: 10.1111/all.15214. Epub 2022 Feb 3. PMID: 35006617.
Frank MM, Gelfand JA, Atkinson JP. Hereditary angioedema: the clinical syndrome and its management. Ann Intern Med. 1976 May;84(5):580-93.
Published
2023-03-24
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Ганева М. Наследствен ангиоедем. Редки болести и лекарства сираци [Internet]. 2023Mar.24 [cited 2024Nov.24];13(3-4):5-. Available from: https://journal.raredis.org/index.php/RBLS/article/view/166
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