본문 바로가기
KERD
논문KCI 등재

유전성 혈관부종의 진단과 치료: 전문가 의견서

Diagnosis and treatment of hereditary angioedema: An expert opinion

1

조회

0

다운로드

2

인용

0

참고문헌

키워드

주제분류소아과학

초록

Hereditary angioedema (HAE) is a rare disease, but it severely interrupts daily life activities and can sometimes be life-threatening. Therefore, early diagnosis and prompt treatment of HAE attacks are critical. Physicians should be aware of how to diagnose and manage HAE to prepare not to miss a diagnosis when treating HAE patients. Physicians must also carry out tests to confirm the diagnosis of HAEs caused by C1 inhibitor deficiency (type 1) or C1 inhibitor dysfunction (type 2) in patients with recurrent angioedema. In addition, recent studies revealed another type of HAE which is not related to C1 inhibitor (normal C1 inhibitor HAE). Once HAE is confirmed, patients and their caregivers should be given with short-term and long-term treatment plans to relieve or prevent HAE attacks. HAE requires life-long measures, including psychological support for patients and self-management education.

Abstract

Hereditary angioedema (HAE) is a rare disease, but it severely interrupts daily life activities and can sometimes be life-threatening. Therefore, early diagnosis and prompt treatment of HAE attacks are critical. Physicians should be aware of how to diagnose and manage HAE to prepare not to miss a diagnosis when treating HAE patients. Physicians must also carry out tests to confirm the diagnosis of HAEs caused by C1 inhibitor deficiency (type 1) or C1 inhibitor dysfunction (type 2) in patients with recurrent angioedema. In addition, recent studies revealed another type of HAE which is not related to C1 inhibitor (normal C1 inhibitor HAE). Once HAE is confirmed, patients and their caregivers should be given with short-term and long-term treatment plans to relieve or prevent HAE attacks. HAE requires life-long measures, including psychological support for patients and self-management education.

참고문헌 (66)

  1. Maurer M, "The international WAO", EAACI guideline for the management of hereditary angioedema-The 2021 revision and update, 2022, ~
  2. Bork K, "Hereditary angioedema : new findings concerning symptoms, affected organs, and course", Am J Med, 119, pp.267~274 (2006)
  3. Maurer M, "Differences and similarities in the mechanisms and clinical expression of bradykinin-mediated vs. mast cell-mediated angioedema", Clin Rev Allergy Immunol, 61, pp.40~49 (2021)
  4. Cicardi M, "Angioedema due to bradykinin dysregulation", J Allergy Clin Immunol Pract, 6, pp.1132~1141 (2018)
  5. Bygum A, "Hereditary angio-oedema in Denmark : a nationwide survey", Br J Dermatol, 161, pp.1153~1158 (2009)
  6. Germenis AE, "Speletas, genetics of hereditary angioedema revisited", Clin Rev Allergy Immunol, 51, pp.170~182 (2016)
  7. Magerl M, "Hereditary angioedema with normal C1 inhibitor : update on evaluation and treatment", Immunol Allergy Clin North Am, 37, pp.571~584 (2017)
  8. Hoover T, "Angiotensin converting enzyme inhibitor induced angio-oedema : a review of the pathophysiology and risk factors", Clin Exp Allergy, 40, pp.50~61 (2010)
  9. Iwamoto K, "National prevalence survey of hereditary angioedema in Japan", Arerugi, 60, pp.26~32 (2011)
  10. Lei WT, "Type I hereditary angioedema in Taiwan--clinical, biological features and genetic study", Asian Pac J Allergy Immunol, 29, pp.327~331 (2011)
  11. Ren HL, "Clinical features of hereditary angioedema : analysis of 133 cases", Zhonghua Yi Xue Za Zhi, 87, pp.2772~2776 (2007)
  12. Lee JH, "A case of hereditary angioedema", Allergy, 14, pp.695~701 (1994)
  13. Lee YS, "A case of hereditary angioedema", Korean J Dermatol, 32, pp.115~118 (1994)
  14. Suh KS, "Three cases of hereditary angioedema in one family", Korean J Dermatol, 33, pp.564~569 (1995)
  15. Lee JA, "A case of hereditary angioedema not manifestated classical autosomal dominant trait", Korean J Allergy, 17, pp.574~579 (1997)
  16. Ha CY, "A case of acquired angioedema with C1 esterase inhibitor deficiency", J Asthma Allergy Clin Immunol, 19, pp.224~228 (1999)
  17. Kim SH, "A case of hereditary angioedema associated with idiopathic hypoparathyroidism", Korean J Intern Med, 16, pp.281~283 (2001)
  18. Lim YC, "Hereditary angioneurotic edema of the larynx", Acta Otolaryngol, 125, pp.1240~1243 (2005)
  19. 심대보, "후두에 발생한 유전성 혈관부종 1예", 대한이비인후-두경부외과학회지, 49(4), pp.464~467 (2006), 대한이비인후과학회
  20. 이준규, "두경부 혈관부종에 대한 임상적 고찰", 대한이비인후-두경부외과학회지, 51(8), pp.726~730 (2008), 대한이비인후과학회
  21. 정진영, "Migraine-like Headache in a Patient with Complement 1 Inhibitor Deficient Hereditary Angioedema", Journal of Korean Medical Science, 27(1), pp.104~106 (2012), 대한의학회
  22. 이서영, "유전성 혈관부종 환자에서의 성공적인 제왕절개 분만 1예", 천식 및 알레르기, 32(4), pp.264~267 (2012), 대한천식알레르기학회
  23. 신미용, "A Case of Hereditary Angioedema in a 7-Year-Old Korean Girl", Allergy, Asthma & Immunology Research, 5(1), pp.59~61 (2013), 대한천식알레르기학회
  24. 심다운, "A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation", Allergy, Asthma & Immunology Research, 9(1), pp.96~98 (2017), 대한천식알레르기학회
  25. 황유경, "Icatibant로 급성 악화를 치료한 제2형 유전성혈관부종 1예", Allergy Asthma & Respiratory Disease, 9(3), pp.180~183 (2021), 대한 소아알레르기 호흡기학회[DOI]
  26. Park Jeong Wook, "Capillary leak syndrome and disseminated intravascular coagulation after kidney transplantation in a patient with hereditary angioedema - A case report -", Anesthesia and Pain Medicine, 16(1), pp.75~80 (2021), 대한마취통증의학회[DOI]
  27. 방윤식, "An anesthetic experience of hereditary angioedema type I patient undertook total laparoscopic hysterectomy - A case report -", Anesthesia and Pain Medicine, 17(2), pp.235~238 (2022), 대한마취통증의학회[DOI]
  28. Kang HR, "Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients : newly found C1 inhibitor gene mutations", Allergy, 61, pp.260~264 (2006)
  29. 이서영, "설문조사를 통한 국내 유전성 혈관부종 진료 현황 및 국내 사례 문헌고찰", Allergy Asthma & Respiratory Disease, 2(4), pp.277~284 (2014), 대한 소아알레르기 호흡기학회
  30. Jung JW, "Clinical features of hereditary angioedema in Korean patients : a nationwide multicenter study", Int Arch Allergy Immunol, 176, pp.272~279 (2018)
  31. Zuraw B, "Pathogenesis and laboratory diagnosis of hereditary angioedema", Allergy Asthma Proc, 30, pp.487~492 (2009)
  32. Valle SOR, "Hereditary angioedema : screening of first-degree blood relatives and earlier diagnosis", Allergy Asthma Proc, 40, pp.279~281 (2019)
  33. Zingale LC, "Acquired deficiency of the inhibitor of the first complement component : presentation, diagnosis, course, and conventional management", Immunol Allergy Clin North Am, 26, pp.669~690 (2006)
  34. Sobotkova M, "Acquired angioedema with C1 inhibitor deficiency : occurrence, clinical features, and management : a nationwide retrospective study in the Czech Republic patients", Int Arch Allergy Immunol, 182, pp.642~649 (2021)
  35. Gobert D, "Acquired angioedema due to C1-inhibitor deficiency : CREAK recommendations for diagnosis and treatment", Rev Med Interne, 41, pp.838~842 (2020)
  36. Gobert D, "A nationwide study of acquired C1-inhibitor deficiency in France : characteristics and treatment responses in 92 patients", Medicine(Baltimore), 95, pp.e4363~ (2016)
  37. 조효정, "Clinical Characteristics of Angioedema With Eosinophilia", Allergy, Asthma & Immunology Research, 6(4), pp.362~365 (2014), 대한천식알레르기학회
  38. Weller PF, "The idiopathic hypereosinophilic syndrome", Blood, 83, pp.2759~2779 (1994)
  39. Zanichelli A, "Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency", Allergy, 70, pp.1553~1558 (2015)
  40. Magerl M, "Characterization of prodromal symptoms in a large population of patients with hereditary angio-oedema", Clin Exp Dermatol, 39, pp.298~303 (2014)
  41. Prematta MJ, "Per-attack reporting of prodromal symptoms concurrent with C1-inhibitor treatment of hereditary angioedema attacks", Adv Ther, 29, pp.913~922 (2012)
  42. Rasmussen ER, "Urticaria and prodromal symptoms including erythema marginatum in Danish patients with hereditary angioedema", Acta Derm Venereol, 96, pp.373~376 (2016)
  43. Wentzel N, "Fresh frozen plasma for on-demand hereditary angioedema treatment in South Africa and Iran", World Allergy Organ J, 12, pp.100049~ (2019)
  44. Boccon-Gibod I, "Safety and efficacy of icatibant self-administration for acute hereditary angioedema", Clin Exp Immunol, 168, pp.303~307 (2012)
  45. Javaud N, "Factors associated with hospital admission in hereditary angioedema attacks : a multicenter prospective study", Ann Allergy Asthma Immunol, 114, pp.499~503 (2015)
  46. Bork K, "Efficacy of different medical therapies for the treatment of acute laryngeal attacks of hereditary angioedema due to C1-esterase inhibitor deficiency", J Emerg Med, 50, pp.567~580 (2016)
  47. Simon TL, "Manufacturing of plasma-derived C1-inhibitor concentrate for treatment of patients with hereditary angioedema", Allergy Asthma Proc, 41, pp.99~107 (2020)
  48. Reshef A, "Recombinant human C1 esterase inhibitor treatment for hereditary angioedema attacks in children", Pediatr Allergy Immunol, 30, pp.562~568 (2019)
  49. Farkas H, "Icatibant as acute treatment for hereditary angioedema in adults", Expert Rev Clin Pharmacol, 9, pp.779~788 (2016)
  50. Bork K, "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, pp.58~64 (2011)
  51. Farkas H, "The efficacy of short-term danazol prophylaxis in hereditary angioedema patients undergoing maxillofacial and dental procedures", J Oral Maxillofac Surg, 57, pp.404~408 (1999)
  52. Magerl M, "Short-term prophylactic use of C1-inhibitor concentrate in hereditary angioedema : findings from an international patient registry", Ann Allergy Asthma Immunol, 118, pp.110~112 (2017)
  53. Nanda MK, "A cross-sectional questionnaire assessing patient and physician use of short-term prophylaxis for hereditary angioedema", Ann Allergy Asthma Immunol, 113, pp.198~203 (2014)
  54. Valerieva A, "Recombinant human C1 esterase inhibitor as short-term prophylaxis in patients with hereditary angioedema", J Allergy Clin Immunol Pract, 8, pp.799~802 (2020)
  55. Craig T, "Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency", Ann Allergy Asthma Immunol, 121, pp.673~679 (2018)
  56. Farkas H, "Risk of thromboembolism in patients with hereditary angioedema treated with plasma-derived C1-inhibitor", Allergy Asthma Proc, 37, pp.164~170 (2016)
  57. Riedl MA, "Lanadelumab demonstrates rapid and sustained prevention of hereditary angioedema attacks", Allergy, 75, pp.2879~2887 (2020)
  58. Bork K, "Benefits and risks of danazol in hereditary angioedema : a long-term survey of 118 patients", Ann Allergy Asthma Immunol, 100, pp.153~161 (2008)
  59. Bouillet L, "Hereditary angioedema in women : specific challenges", Immunol Allergy Clin North Am, 33, pp.505~511 (2013)
  60. Johnston DT, "Androgen use in hereditary angioedema : a critical appraisal and approaches to transitioning from androgens to other therapies", Allergy Asthma Proc, 42, pp.22~29 (2021)
  61. Lundh B, "Tranexamic acid in hereditary angioneurotic edema--a progress report", N Engl J Med, 288, pp.53~ (1973)
  62. Frank MM, "Update on preventive therapy(prophylaxis)of hereditary angioedema", Allergy Asthma Proc, 32, pp.17~21 (2011)
  63. Kulthanan K, "Angioedema quality of life questionnaire(AE-QoL)-interpretability and sensitivity to change", Health Qual Life Outcomes, 17, pp.160~ (2019)
  64. Mendivil J, "Clinical characteristics and burden of illness in patients with hereditary angioedema : findings from a multinational patient survey", Orphanet J Rare Dis, 16, pp.94~ (2021)
  65. Weller K, "The Angioedema Quality of Life Questionnaire(AE-QoL)-assessment of sensitivity to change and minimal clinically important difference", Allergy, 71, pp.1203~1209 (2016)
  66. Weller K, "Development and construct validation of the angioedema quality of life questionnaire", Allergy, 67, pp.1289~1298 (2012)

관련 논문AI추천

소아, 임산부 및 수유부에서의 유전성 혈관부종: 전문가 의견서강민규, 강성윤, 강혜련, 권혁수, 김건우, 김세훈, 김주희, 박경희, 박소영, 박혜정, 서동인, 손경희, 윤선영, 이동훈, 정재우대한 소아알레르기 호흡기학회 · Allergy Asthma & Respiratory Disease2022 · 제10권 제3호설문조사를 통한 국내 유전성 혈관부종 진료 현황 및 국내 사례 문헌고찰강혜련, 민경업, 안영민, 이서영, 이수영, 정재우, 대한천식알레르기학회 아나필락시스 워크그룹대한 소아알레르기 호흡기학회 · Allergy Asthma & Respiratory Disease2014 · 제2권 제4호Icatibant로 급성 악화를 치료한 제2형 유전성혈관부종 1예김세훈, 김용현, 안경민, 장윤석, 황유경대한 소아알레르기 호흡기학회 · Allergy Asthma & Respiratory Disease2021 · 제9권 제3호심한 복통, 혈압 저하 및 두드러기로 나타난 1형 유전성 혈관부종 1예김미영, 임아나대한 소아알레르기 호흡기학회 · Allergy Asthma & Respiratory Disease2023 · 제11권 제2호유전성 혈관부종 환자에서의 성공적인 제왕절개 분만 1예강혜련, 김민혜, 민경업, 송우정, 이서영, 이승은대한천식알레르기학회 · 천식 및 알레르기2012 · 제32권 제4호호산구증다증과 동반된 맥관부종의 아형 2예문희범, 박찬선, 안정민, 이성숙, 이태훈, 임정우, 조유숙대한내과학회 · 대한내과학회지2005 · 제69권 제6호

이 간행물의 다른 논문 (8건)