Диагностика и лечение наследственного ангиоотека с нормальным уровнем С1-ингибитора

Емельянов А.В., Лешенкова Е.В., Каменева Г.А. Диагностика и лечение наследственного ангиоотека с нормальным уровнем С1-ингибитора. Терапевтический архив. 2020; 92 (12): 86–90. DOI: 10.26442/00403660.2020.12.200447

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Emelyanov A.V., Leshenkova E.V., Kameneva G.A. Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level. Therapeutic Archive. 2020; 92 (12): 86–90. DOI: 10.26442/00403660.2020.12.200447

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Аннотация

Наследственный ангиоотек (НАО) с нормальным уровнем С1-ингибитора является редким потенциально жизнеугрожающим заболеванием с аутосомно-доминантным типом наследования, которое впервые описано в 2000 г. Клинические проявления его напоминают НАО с дефицитом С1-ингибитора. В обзоре приводятся данные о распространенности, механизмах развития, генетике и диагностических критериях НАО с нормальным уровнем С1-ингибитора. Обсуждаются различные подтипы этого заболевания и принципы лечения (купирование симптомов, краткосрочная и длительная профилактика). Описан клинический случай семейного НАО с нормальным уровнем С1-ингибитора и мутацией гена плазминогена у 2 пациенток. Особенностью заболевания явились поздняя постановка правильного диагноза (через 10–25 лет после начала болезни), отягощенная наследственность (наличие аналогичной мутации гена плазминогена у 3 кровных родственников женского пола, у одной из которых – без клинических симптомов), сочетание в клинической картине у двух родных сестер ангиоотеков лица, языка, гортани и абдоминальных атак.

Ключевые слова: наследственный ангиоотек с нормальным уровнем С1-ингибитора, механизм развития, диагностика, лечение, клинический пример.

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Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.

Keywords: hereditary angioedema with normal C1-inhibitor, mechanisms, diagnosis, treatment and clinical case.

Список литературы

1. Binkley KE, Davis A 3rd. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol. 2000;106(3):546-50. doi: 10.1067/mai.2000.108106
2. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000;356(9225):213-17. doi: 10.1016/S0140-6736(00)02483-1
3. Bork K, Gül D, Dewald G. Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Br J Dermatol. 2006;154(3):542-5. doi: 10.1111/j.1365-2133.2005.07048.x
4. Maurer M, Magerl M, Ansotegui I, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2017 revision and update. Allergy. 2018;73(8):1575-96. doi: 10.1111/all.13384
5. Zuraw BL, Bork K, Binkley KE, et al. Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012;33(Suppl. 1):S145-56. doi: 10.2500/aap.2012.33.3627
6. Busse PJ, Christiansen SC. Hereditary Angioedema. N Engl J Med. 2020;382(12):1136-48. doi: 10.1056/NEJMra1808012
7. Zuraw BL. Hereditary angioedema with normal C1 inhibitor: Four types and counting. J Allergy Clin Immunol. 2018;141(3):884-5. doi: 10.1016/j.jaci.2018.01.015
8. Morgan BP. Hereditary angioedema – therapies old and new. N Engl J Med. 2010;363(6):581-3. doi: 10.1056/NEJMe1006450
9. Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet. 2012;379(9814):474-81. doi: 10.1016/S0140-6736(11)60935-5
10. 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(3):1009-17. doi: 10.1016/j.jaci.2017.05.020
11. Bork K, Wulff K, Steinmüller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy. 2018;73(2):442-50. doi: 10.1111/all.13270
12. Bork K, Wulff K, Rossmann H, et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin. Allergy. 2019;74(12):2479-81. doi: 10.1111/all.13869.
13. Wu MA, Perego F, Zanichelli A, Cicardi M. Angioedema Phenotypes: Disease Expression and Classification. Clin Rev Allergy Immunol. 2016;51(2):162-9. doi: 10.1007/s12016-016-8541-z
14. Wu E. Hereditary angioedema with normal C1 inhibitor. https://www.uptodate.com/contents/hereditary-angioedema-with-normal-c1-inhibitor
15. Binkley KE. Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions. Allergy Asthma Clin Immunol. 2010;6(1):16. doi: 10.1186/1710-1492-6-16
16. Bork K, Wulff K, Witzke G, Hardt J. Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy. 2015;70(8):1004-12. doi: 10.1111/all.12648
17. Li HH, Busse P, Lumry WR, et al. Comparison of chromogenic and ELISA functional C1 inhibitor tests in diagnosing hereditary angioedema. J Allergy Clin Immunol Pract. 2015;3(2):200-5. doi: 10.1016/j.jaip.2014.08.002
18. Boccon-Gibod I, Bouillet L. Safety and efficacy of icatibant self-administration for acute hereditary angioedema. Clin Exp Immunol. 2012;168(3):303-7. doi: 10.1111/j.1365-2249.2012.04574.x
19. Bouillet L, Boccon-Gibod I, Launay D, et al. Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant. Immun Inflamm Dis. 2017;5(1):29-36. doi: 10.1002/iid3.137
20. Santucci S, Pham H, William Yang WH. HAE with normal C1-INH with inconsistent response to C1 Esterase Inhibitor Infusion but reliably responsive to Icatibant. J Allergy Clin Immunol. 2016;137(Suppl. 2): abstract AB246. doi: 10.1016/j.jaci.2015.12.989
21. 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(2):320-4. doi: 10.1111/all.13076
22. Garcia JFB, Takejima P, Veronez CL, et al. Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. J Allergy Clin Immunol Pract. 2018;6(4):1406-8. doi: 10.1016/j.jaip.2017.12.022
23. 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(1):52. doi: 10.1186/s13023-020-1334-8
24. Фомина Д.С., Бобрикова Е.Н., Сердотецкова С.А. Особенности диагностики и клинических подходов к ведению пациентов с наследственными ангиоотеками без дефицита ингибитора С1-эстеразы. Анализ клинической ситуации. Российский аллергологический журнал. 2020;17(1):58-65 [Fomina DS, Bobrikova EN, Serdotetskova SA. Features of diagnostics and clinical approaches to case management of patients with hereditary angioedema without C1 esterase inhibitor deficiency. Analysis of the clinical case. Russ J Allergy. 2020;17(1):58-65 (In Russ.)]. doi: 10.36691/RAJ.2020.17.1.006

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1. Binkley KE, Davis A 3rd. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol. 2000;106(3):546-50. doi: 10.1067/mai.2000.108106
2. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000;356(9225):213-17. doi: 10.1016/S0140-6736(00)02483-1
3. Bork K, Gül D, Dewald G. Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Br J Dermatol. 2006;154(3):542-5. doi: 10.1111/j.1365-2133.2005.07048.x
4. Maurer M, Magerl M, Ansotegui I, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2017 revision and update. Allergy. 2018;73(8):1575-96. doi: 10.1111/all.13384
5. Zuraw BL, Bork K, Binkley KE, et al. Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012;33(Suppl. 1):S145-56. doi: 10.2500/aap.2012.33.3627
6. Busse PJ, Christiansen SC. Hereditary Angioedema. N Engl J Med. 2020;382(12):1136-48. doi: 10.1056/NEJMra1808012
7. Zuraw BL. Hereditary angioedema with normal C1 inhibitor: Four types and counting. J Allergy Clin Immunol. 2018;141(3):884-5. doi: 10.1016/j.jaci.2018.01.015
8. Morgan BP. Hereditary angioedema – therapies old and new. N Engl J Med. 2010;363(6):581-3. doi: 10.1056/NEJMe1006450
9. Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet. 2012;379(9814):474-81. doi: 10.1016/S0140-6736(11)60935-5
10. 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(3):1009-17. doi: 10.1016/j.jaci.2017.05.020
11. Bork K, Wulff K, Steinmüller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy. 2018;73(2):442-50. doi: 10.1111/all.13270
12. Bork K, Wulff K, Rossmann H, et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin. Allergy. 2019;74(12):2479-81. doi: 10.1111/all.13869.
13. Wu MA, Perego F, Zanichelli A, Cicardi M. Angioedema Phenotypes: Disease Expression and Classification. Clin Rev Allergy Immunol. 2016;51(2):162-9. doi: 10.1007/s12016-016-8541-z
14. Wu E. Hereditary angioedema with normal C1 inhibitor. https://www.uptodate.com/contents/hereditary-angioedema-with-normal-c1-inhibitor
15. Binkley KE. Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions. Allergy Asthma Clin Immunol. 2010;6(1):16. doi: 10.1186/1710-1492-6-16
16. Bork K, Wulff K, Witzke G, Hardt J. Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy. 2015;70(8):1004-12. doi: 10.1111/all.12648
17. Li HH, Busse P, Lumry WR, et al. Comparison of chromogenic and ELISA functional C1 inhibitor tests in diagnosing hereditary angioedema. J Allergy Clin Immunol Pract. 2015;3(2):200-5. doi: 10.1016/j.jaip.2014.08.002
18. Boccon-Gibod I, Bouillet L. Safety and efficacy of icatibant self-administration for acute hereditary angioedema. Clin Exp Immunol. 2012;168(3):303-7. doi: 10.1111/j.1365-2249.2012.04574.x
19. Bouillet L, Boccon-Gibod I, Launay D, et al. Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant. Immun Inflamm Dis. 2017;5(1):29-36. doi: 10.1002/iid3.137
20. Santucci S, Pham H, William Yang WH. HAE with normal C1-INH with inconsistent response to C1 Esterase Inhibitor Infusion but reliably responsive to Icatibant. J Allergy Clin Immunol. 2016;137(Suppl. 2): abstract AB246. doi: 10.1016/j.jaci.2015.12.989
21. 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(2):320-4. doi: 10.1111/all.13076
22. Garcia JFB, Takejima P, Veronez CL, et al. Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. J Allergy Clin Immunol Pract. 2018;6(4):1406-8. doi: 10.1016/j.jaip.2017.12.022
23. 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(1):52. doi: 10.1186/s13023-020-1334-8
24. [Fomina DS, Bobrikova EN, Serdotetskova SA. Features of diagnostics and clinical approaches to case management of patients with hereditary angioedema without C1 esterase inhibitor deficiency. Analysis of the clinical case. Russ J Allergy. 2020;17(1):58-65 (In Russ.)]. doi: 10.36691/RAJ.2020.17.1.006

Авторы

А.В. Емельянов 1, Е.В. Лешенкова 1, Г.А. Каменева 2

1 ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава России,
Санкт-Петербург, Россия;
2 ГБУЗ АО «Архангельская областная клиническая больница», Архангельск, Россия

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A.V. Emelyanov 1, E.V. Leshenkova 1, G.A. Kameneva 2

1 Mechnikov North-Western State Medical University, Saint Petersburg, Russia;
2 Arkhangelsk Regional Clinical Hospital, Arkhangelsk, Russia

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