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The attack localizations in C1 inhibitor deficient hereditary angioedema patients

Yıl 2020, Cilt: 3 Sayı: 1, 5 - 11, 31.03.2020

Asuman Çamyar Melih Özışık Hasibe Aytaç Gökten Bulut Semiha Özgül A Gelincik Emine Nihal Mete Gökmen

https://doi.org/10.33204/mucosa.658569
Cited By: 1

Öz

Background Hereditary angioedema (HAE) is a rare autosomal dominant inherited disease characterized by recurrent angioedema episodes and classified as HAE with C1-inhibitor (C1INH) deficiency (HAE-C1INH) and HAE with normal C1-inhibitor (HAE-nlC1INH). It may involve the face, larynx, upper airways, trunk, gastrointestinal system, genital area, and extremities. The angioedema attacks are disabling, and laryngeal edema can lead to asphyxiation and death if it is not treated successfully. We aim to investigate the association between the attack localizations and complement parameters of HAE C1INH patients.
Methods Patients with HAE-C1INH from Ege University Faculty of Medicine were included. Patients with HAE-nl-C1INH were excluded from the study. Data on the clinical records were obtained retrospectively. Sociodemographic data, age at disease onset, annual attack frequencies, attack localizations, and complement parameters were recorded.
Results One-hundred patients were in the study group. Fifty four percent of them were female. The majority of patients were HAE-C1INH type I (87%). The mean age at disease onset was 12.01 ±7.04 years. Plasma C4 levels were normal in eight patients (8.16%). The most frequently involved localizations were extremities (91%), gastrointestinal system (89%), and genital area (85%). Having a facial attack and erythema marginatum were both found to be correlated with the occurrence of laryngeal edema. Laryngeal edema was seen in 83.8% of the patients with erythema marginatum (P=0.010), and 75.9% of the patients with facial attacks (P<0.001).
Conclusion The correlation between erythema marginatum and laryngeal edema was not reported in previous studies. Due to the unpredictable and fatal nature of the laryngeal attacks, all HAE patients and physicians should be alert of the occurrence and emergency treatment of laryngeal edema. We recommend that C4 alone should not be used to exclude the diagnosis of HAE-C1INH. The laboratory work-up should also include C1 inhibitor levels and C1INH function analysis.

Anahtar Kelimeler

hereditary angioedema attack localization c4 laryngeal edema erythema marginatum

Kaynakça

  • 1. Osler W. Hereditary angioneurotic edema. Am J Med Sci 1888;95:362-7.
  • 2. Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicians. Arch Intern Med 2001;161:2417-29.
  • 3. Frank MM. Urticaria and angioedema. In Cecil’s Textbook of Medicine 21st edition Edited by Goldman L. Philadelphia 2000;1440-5.
  • 4. 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.
  • 5. Bygum A.Hereditary angio-oedema in Denmark: A nationwide Survey.Br J Dermatol 2009;161:1153-8.
  • 6. 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.
  • 7. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000;356:213-7.
  • 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. 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;74:2479-81.
  • 10. Nussberger J, Cugno M, Cicardi M. Bradykinin-mediated angioedema. N Engl J Med 2002;347:621-2.
  • 11. Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 2009;15:69-78.
  • 12. Bork K, Hardt J, Witzke G. Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. J Allergy Clin Immunol 2012;130:692-7.
  • 13. Agostoni A, Aygoren-Pursun 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):51-131.
  • 14. Kuman TO, Gokmen NM, Demir E, Gulbahar O, Pirildar S. The impact of hereditary angioedema on quality of life and family planning decisions. Int J Psychiatry Med 2019;54:377-94.
  • 15. 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.
  • 16. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 2006;119:267-74.
  • 17. Roche O, Blanch A, Caballero T, Sastre N, Callejo D, Lopez-Trascasa M. Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Ann Allergy Asthma Immunol 2005;94:498-503.
  • 18. Bouillet L, Launay D, Fain O, et al. Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. Ann Allergy Asthma Immunol 2013;111:290-4.
  • 19. Zanichelli A, Magerl M, Longhurst HJ, et al. Improvement in diagnostic delays over time in patients with hereditary angioedema: findings from the Icatibant Outcome Survey. Clin Transl Allergy 2018;8:42.
  • 20. Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992;71:206-15.
  • 21. Donaldson VH, Rosen FS. Action of complement in hereditary angioneurotic edema: the role of C1-esterase. J Clin Invest 1964;43:2204-13.
  • 22. Betschel S, Badiou J, Binkley K, et al. The international/ Canadian hereditary angioedema guideline. Allergy Asthma Clin Immunol 2019;15:72.
  • 23. Gompels MM, Lock RJ, Morgan JE, Osborne J, Brown A, Virgo PF. A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J Clin Pathol 2002;55:145-7.
  • 24. Tarzi MD, Hickey A, Forster T, Mohammadi M, Longhurst HJ. An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema. Clin Exp Immunol 2007;149:513-6.

C1 inhibitör eksikliği olan herediter anjioödem hastalarında atak lokalizasyonları

Yıl 2020, Cilt: 3 Sayı: 1, 5 - 11, 31.03.2020

Asuman Çamyar Melih Özışık Hasibe Aytaç Gökten Bulut Semiha Özgül A Gelincik Emine Nihal Mete Gökmen

https://doi.org/10.33204/mucosa.658569
Cited By: 1

Öz

Amaç Herediter anjiyoödem (HA) tekrarlayan anjiyoödem atakları ile karakterize otozomal dominant nadir bir hastalıktır. HA, C1-inhibitörü (C1INH) eksikliği ile seyreden (C1INH-HA) ve C1-inhibitörü normal HA (nlC1INH-HA) olarak sınıflandırılır. Ataklar sırasında üst solunum yolları, gövde, gastrointestinal sistem, genital bölge ve ekstremitelerde tekrarlayan şişlikler oluşur. Larinks ödemi uygun tedavi edilmediği takdirde ölüme yol açabilir. Bu çalışmada C1INH-HA hastalarının atak lokalizasyonları ile kompleman parametreleri arasındaki ilişki incelenmiştir.

Yöntem Ege Üniversitesi Tıp Fakültesi’nde izlenmekte olan C1INH-HA hastaları dahil edildi. nlC1INH-HA hastaları çalışmaya alınmadı. Klinik kayıtlara ilişkin veriler retrospektif olarak elde edildi. Sosyodemografik veriler, hastalığın başlangıç yaşı, yıllık atak sıklıkları, atak lokalizasyonu ve kompleman parametreleri kaydedildi.

Bulgular Çalışma grubunda 100 hasta mevcuttu. Hastaların %54’ü kadındı. Hastaların çoğunda Tip 1 C1INHHA (%87) vardı. Ortalama hastalık başlangıç yaşı 12.01 ±7.04 yıldı. Plazma C4 düzeyleri sekiz hastada (%8.16) normaldi. En sık tutulan lokalizasyonlar ekstremiteler (%91), gastrointestinal sistem (%89) ve genital bölge (%85) idi. Yüz bölgesinde atak geçirme ve eritema marginatuma sahip olma ayrı ayrı analiz edildiğinde her ikisi de laringeal ödem varlığı ile ilişkili bulunmuştur. Eritema marginatumu olan hastaların % 83.8’ inde (P=0.01), yüz atakları olan hastaların %75.9’ unda (P<0.001) laringeal ödem görülmüştür.

Sonuç Eritema marginatum ve laringeal ödem arasındaki ilişki önceki çalışmalarda bildirilmemiştir. Laringeal atakların öngörülemeyen ve ölümcül doğası nedeniyle, tüm HA hastaları ve doktorlar laringeal ödemin gelişimi ve acil tedavisi konusunda gerekli bilgi ve beceriye sahip olmalıdır. C1INH-HA tanısını dışlamak için tek başına C4 kullanılmaması önerilir. Laboratuar analizleri C1INH düzeyleri ve C1INH fonksiyon analizini de içermelidir.

Anahtar Kelimeler

herediter anjioödem atak lokalizasyonu c4 larinks ödemi eritema marginatum

Kaynakça

  • 1. Osler W. Hereditary angioneurotic edema. Am J Med Sci 1888;95:362-7.
  • 2. Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicians. Arch Intern Med 2001;161:2417-29.
  • 3. Frank MM. Urticaria and angioedema. In Cecil’s Textbook of Medicine 21st edition Edited by Goldman L. Philadelphia 2000;1440-5.
  • 4. 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.
  • 5. Bygum A.Hereditary angio-oedema in Denmark: A nationwide Survey.Br J Dermatol 2009;161:1153-8.
  • 6. 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.
  • 7. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000;356:213-7.
  • 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. 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;74:2479-81.
  • 10. Nussberger J, Cugno M, Cicardi M. Bradykinin-mediated angioedema. N Engl J Med 2002;347:621-2.
  • 11. Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 2009;15:69-78.
  • 12. Bork K, Hardt J, Witzke G. Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. J Allergy Clin Immunol 2012;130:692-7.
  • 13. Agostoni A, Aygoren-Pursun 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):51-131.
  • 14. Kuman TO, Gokmen NM, Demir E, Gulbahar O, Pirildar S. The impact of hereditary angioedema on quality of life and family planning decisions. Int J Psychiatry Med 2019;54:377-94.
  • 15. 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.
  • 16. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 2006;119:267-74.
  • 17. Roche O, Blanch A, Caballero T, Sastre N, Callejo D, Lopez-Trascasa M. Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Ann Allergy Asthma Immunol 2005;94:498-503.
  • 18. Bouillet L, Launay D, Fain O, et al. Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. Ann Allergy Asthma Immunol 2013;111:290-4.
  • 19. Zanichelli A, Magerl M, Longhurst HJ, et al. Improvement in diagnostic delays over time in patients with hereditary angioedema: findings from the Icatibant Outcome Survey. Clin Transl Allergy 2018;8:42.
  • 20. Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992;71:206-15.
  • 21. Donaldson VH, Rosen FS. Action of complement in hereditary angioneurotic edema: the role of C1-esterase. J Clin Invest 1964;43:2204-13.
  • 22. Betschel S, Badiou J, Binkley K, et al. The international/ Canadian hereditary angioedema guideline. Allergy Asthma Clin Immunol 2019;15:72.
  • 23. Gompels MM, Lock RJ, Morgan JE, Osborne J, Brown A, Virgo PF. A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J Clin Pathol 2002;55:145-7.
  • 24. Tarzi MD, Hickey A, Forster T, Mohammadi M, Longhurst HJ. An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema. Clin Exp Immunol 2007;149:513-6.
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri
Bölüm Original Articles
Yazarlar

Asuman Çamyar 0000-0002-9438-7300

Melih Özışık 0000-0002-2987-6933

Hasibe Aytaç 0000-0002-4556-0824

Gökten Bulut 0000-0002-4735-0564

Semiha Özgül 0000-0002-0220-1207

A Gelincik 0000-0002-3524-9952

Emine Nihal Mete Gökmen 0000-0002-2450-5439

Yayımlanma Tarihi 31 Mart 2020
Yayımlandığı Sayı Yıl 2020 Cilt: 3 Sayı: 1

Kaynak Göster

Vancouver Çamyar A, Özışık M, Aytaç H, Bulut G, Özgül S, Gelincik A, Mete Gökmen EN. The attack localizations in C1 inhibitor deficient hereditary angioedema patients. Mucosa. 2020;3(1):5-11.

Cited By

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Emergency Medicine International
https://doi.org/10.1155/2023/8847030
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