The attack localizations in C1 inhibitor deficient hereditary angioedema patients

Year 2020, Volume: 3 Issue: 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: 2

Abstract

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.

Keywords

hereditary angioedema, attack localization, c4, laryngeal edema, erythema marginatum

C1 inhibitör eksikliği olan herediter anjioödem hastalarında atak lokalizasyonları

Abstract

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.

Keywords

herediter anjioödem, atak lokalizasyonu, c4, larinks ödemi, eritema marginatum

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