Herediter anjioödemli bir olgu

Amaç: Herediter anjioödem kompleman (C)1 inhibitörünün konjenital yetmezliği sonucu oluşur. Deride şişlik, abdominal ağrı ve üst solunum yolları obstrüksiyonu ile karakterizedir. Larinks ödemi hızla asfiksiye neden olabilir ve acil müdahaleyi gerektirir. Olgu sunumu: Acil servimize kaşıntı ve ağrının eşlik etmediği yüz, boyun, ekstremitelerde tekrarlayan şişlik ve solunum güçlüğü şikayetiyle başvuran 28 yaşında bir erkek hastayı sunuyoruz. Hastanın hikayesinde 15 yıldır benzer şikayetlerden oluşan atak öyküsü vardı ve annesinin 20 yıl önce anaflaktik bir reaksiyon sonucu öldüğü tespit edildi. Laboratuar incelemelerinde C4 ve C1 inhibitör seviyesinin düşük olduğu bulundu. Hastaya ancak birkaç kez değişik hastanelere başvurduktan sonra bu bulguların ışığında herediter anjioödem tanısı konuldu. Danazol tedavisinden sonra hastanın fizik muayene ve laboratuar bulguları normale döndü. Sonuç: Hekimlerin bu nadir hastalığa karşı uyanık olmalarını ve bu hastalara spesifik tedavi vermelerini öneriyoruz.

Anahtar Kelimeler:

Erişkin, Anaflaksi, Erkek, Anjiyoödem, kalıtsal

A case of hereditary angioedema

Objective: Hereditary angioedema results from a congenital deficiency of compleman (C)1 inhibitor and is characterized by skin swelling and abdominal pain and episodes of upper respiratory tract obstruction. Edema of the larynx may result in rapid asphyxiation and requires emergency treatment. Case report: A 28-year-old man presented to our emergency service with breathing difficulty and recurrent episodes of nonpruritic painless swelling of the face, neck and extremities. The patient’s medical history revealed that he had these attacks of similar compliants for 15 years and the mother of the patient had the same condition and died from anaphylaxis reaction 20 years ago. Laboratory investigations revealed low C4 and C1 inhibitory levels. Our case was only diagnosed after presentation to several hospital departments. Based on these findings a final diagnosis of hereditary angioedema was considered. After danazol treatment, physical examination and laboratory findings were normal. Conclusion: We suggest that physicians should be aware of this rare disease and introduce specific treatments to these patients.

Keywords:

Adult, Anaphylaxis, Male, Angioedemas, Hereditary,

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