.: ORİJİNAL ARAŞTIRMA
5-Year Experience at a Single Center: Retrospective Analysis of 38 Patients with Hereditary Angioedema: A Descriptive Study
Tek Merkez 5 Yıllık Deneyimimiz: 38 Herediter Anjiyoödem Hastasının Retrospektif Analizi: Tanımlayıcı Bir Araştırma
Turkiye Klinikleri J Med Sci. 2021;41(3):258-65
doi: 10.5336/medsci.2021-81334
Makale Dili: EN
Tam Metin
ABSTRACT
Objective: Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent angioedema attacks, without itching or urticaria. With this study, we aimed to increase the awareness of HAE by presenting the characteristics of these patients who applied to the emergency department and allergy immunology clinic. Material and Methods: A total of 38 patients, 25 (65.8%) female and 13 (34.2%) male, were included. Results: The mean age was 40.90±12.66, mean age at the onset of symptoms was 13.5 (1-56), mean age at HAE diagnosis was 24.61±13.78, and the diagnostic delay was 8.84±8.97 years. Of all cases, 18 (47.4%) were followed-up with Type I HEA and 20 (52.6%) were followed up with Type II HAE. A family history of HAE was present in 89.5% and a family history of death due to HAE was present in 31.6% of the patients. Mean age at diagnosis differed significantly between those with or without a family history of death due to HAE (18.0±7.24 vs. 27.65±15.08 years; p=0.043). The episodes were triggered by stress in 20 (52.6%) patients. The symptoms at first presentation included swelling in extremities in 18 (47.4%) patients. Conclusion: Although HAE is a rare disorder associated with variable clinical presentations complicating the diagnostic process, it may also be associated with mortality. Periodic reporting of clinical experience from centers dealing with HAE patients bears significance not only for increasing awareness among medical professionals and preventing diagnostic delays but also for improving the life quality of patients as well as for decreasing the morbidity and mortality.
Keywords: Hereditary angioedema; C1 esterase inhibitor; laryngeal diseases
Objective: Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent angioedema attacks, without itching or urticaria. With this study, we aimed to increase the awareness of HAE by presenting the characteristics of these patients who applied to the emergency department and allergy immunology clinic. Material and Methods: A total of 38 patients, 25 (65.8%) female and 13 (34.2%) male, were included. Results: The mean age was 40.90±12.66, mean age at the onset of symptoms was 13.5 (1-56), mean age at HAE diagnosis was 24.61±13.78, and the diagnostic delay was 8.84±8.97 years. Of all cases, 18 (47.4%) were followed-up with Type I HEA and 20 (52.6%) were followed up with Type II HAE. A family history of HAE was present in 89.5% and a family history of death due to HAE was present in 31.6% of the patients. Mean age at diagnosis differed significantly between those with or without a family history of death due to HAE (18.0±7.24 vs. 27.65±15.08 years; p=0.043). The episodes were triggered by stress in 20 (52.6%) patients. The symptoms at first presentation included swelling in extremities in 18 (47.4%) patients. Conclusion: Although HAE is a rare disorder associated with variable clinical presentations complicating the diagnostic process, it may also be associated with mortality. Periodic reporting of clinical experience from centers dealing with HAE patients bears significance not only for increasing awareness among medical professionals and preventing diagnostic delays but also for improving the life quality of patients as well as for decreasing the morbidity and mortality.
Keywords: Hereditary angioedema; C1 esterase inhibitor; laryngeal diseases
ÖZET
Amaç: Herediter anjiyoödem (HAÖ), ürtiker ve kaşıntının eşlik etmediği, tekrarlayan anjiyoödem atakları ile karakterize, otozomal dominant geçişli nadir bir bozukluktur. Biz, bu çalışma ile HAÖ farkındalığını artırmak için acil servise ve alerji immünoloji kliniğine başvuran HAÖ hastalarının genel özelliklerini sunmayı amaçladık. Gereç ve Yöntemler: Toplam 38 [kadın: 25 (%65,8), erkek: 13 (%34,2)] hastanın verileri incelendi. Bulgular: Hastaların yaş ortalaması 40,90±12,66 yıl, ilk şikâyetlerin başlama yaşı 13,5 (1-56), HAÖ tanı yaşları 24,61±13,78 yaş ve tanıda gecikme 8,84±8,97 yıl idi. On sekiz (%47,4) hasta Tip I HAÖ, 20 (%52,6) hasta Tip II HAÖ olarak takip edilmekteydi. Hastaların %89,5'inin akrabalarında HAÖ tanısı, %31,6'sında ise HAÖ ilişkili akraba ölümü hikâyesi mevcuttu. Ailesinde HAÖ sebebiyle mortalite öyküsü olanlarda tanı yaşı 18,0±7,24; mortalite öyküsü olmayanlarda ise 27,65±15,08 olmak üzere anlamlı fark vardı (p=0,043). Yirmi (%52,6) hastada stres atakları tetiklerken; 18 (%47,4) hastada hastaların başlangıç şikâyeti ekstremitelerde şişlik şeklindeydi. Sonuç: HAÖ, farklı klinik prezantasyonları sebebiyle tanınması zor, nadir ama ölümcül olabilen bir hastalıktır. Hem hekimlerin bu konuda farkındalığının artırılması hem hastalara gecikmeden tanı konulması ve hastaların tedavilerinin gecikmeden başlanması açısından, HAÖ ile ilgilenen merkezlerin belli aralıklar klinik tecrübelerini paylaşması, hastaların yaşam kalitesinin artırılması ve hastalığa bağlı mortalite ve morbiditenin azaltılması açısından oldukça önemlidir.
Anahtar Kelimeler: Herediter anjiyoödem; C1 esteraz inhibitörü; larinks hastalıkları
Amaç: Herediter anjiyoödem (HAÖ), ürtiker ve kaşıntının eşlik etmediği, tekrarlayan anjiyoödem atakları ile karakterize, otozomal dominant geçişli nadir bir bozukluktur. Biz, bu çalışma ile HAÖ farkındalığını artırmak için acil servise ve alerji immünoloji kliniğine başvuran HAÖ hastalarının genel özelliklerini sunmayı amaçladık. Gereç ve Yöntemler: Toplam 38 [kadın: 25 (%65,8), erkek: 13 (%34,2)] hastanın verileri incelendi. Bulgular: Hastaların yaş ortalaması 40,90±12,66 yıl, ilk şikâyetlerin başlama yaşı 13,5 (1-56), HAÖ tanı yaşları 24,61±13,78 yaş ve tanıda gecikme 8,84±8,97 yıl idi. On sekiz (%47,4) hasta Tip I HAÖ, 20 (%52,6) hasta Tip II HAÖ olarak takip edilmekteydi. Hastaların %89,5'inin akrabalarında HAÖ tanısı, %31,6'sında ise HAÖ ilişkili akraba ölümü hikâyesi mevcuttu. Ailesinde HAÖ sebebiyle mortalite öyküsü olanlarda tanı yaşı 18,0±7,24; mortalite öyküsü olmayanlarda ise 27,65±15,08 olmak üzere anlamlı fark vardı (p=0,043). Yirmi (%52,6) hastada stres atakları tetiklerken; 18 (%47,4) hastada hastaların başlangıç şikâyeti ekstremitelerde şişlik şeklindeydi. Sonuç: HAÖ, farklı klinik prezantasyonları sebebiyle tanınması zor, nadir ama ölümcül olabilen bir hastalıktır. Hem hekimlerin bu konuda farkındalığının artırılması hem hastalara gecikmeden tanı konulması ve hastaların tedavilerinin gecikmeden başlanması açısından, HAÖ ile ilgilenen merkezlerin belli aralıklar klinik tecrübelerini paylaşması, hastaların yaşam kalitesinin artırılması ve hastalığa bağlı mortalite ve morbiditenin azaltılması açısından oldukça önemlidir.
Anahtar Kelimeler: Herediter anjiyoödem; C1 esteraz inhibitörü; larinks hastalıkları
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