Document Type : Original Article

Authors

• Shervin Shahinpour ¹
• Marzieh Tavakol ²
• Hassan Abolhass ani ^{1, 3}
• Payam Mohammadinejad ¹
• Masoud Movahedi ¹
• Saba Arshi ⁴
• Asghar Aghamohammadi ¹

¹ Research Center for Immunod eficiencies, Pediatrics Ce nter of Excel lence, Children's Medical C enter, Tehran University of Medical Sciences, Tehran

² Department of Allergy and Clinical Immunology, Shahid Bahonar Hospital, Alborz U niversity of Medical Sciences, Karaj, Iran

³ Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at the Karoli nska University Hospital Huddinge, Stockholm, Sweden

⁴ Allergy and Clinical Immunology Department of RasolE-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Abstract

Background: Hereditary angioedema (HAE) is a rare autosomal dominant primary immunodeficiency with complement system defect characterized by recurrent episodes of angioedema involving the skin or mucosa of the upper respiratory and gastrointestinal tracts.
Objective: To characterize the clinical and laboratory data of hereditary angioedema in Iran.
Methods: Patients with probable diagnosis of angioedema were enrolled in this study. Demographic and clinical data were documented in the designed questionnaire including history of attacks, triggering factors and laboratory data such as C4, C1 esterase inhibitor level and function.
Results: Among 63 patients who were clinically suspicious for angioedema (23 males and 40 females), 8 cases (12.7%) were diagnosed with HAE. Among these 8 HAE patients, 3 were diagnosed with HAE type 1 and five patients were diagnosed with HAE type 2. The mean ages of HAE type 1 and type 2 patients were 25.6 ± 13.5 and 22.4 ± 12.32 years. The mean age of onset in HAE type 1 group was 8 ± 5 years and in HAE type 2 group was 18.8 ± 11.84 years. The mean diagnosis delay was 17.6 years in HAE type 1 patients and 2.6 years in HAE type 2. The most common clinical manifestation was facial swelling presented in all HAE patients followed by swelling of extremities which was present in 7 patients with HAE.
Conclusion: The clinical criteria of the Iranian patients with HAE were consistent with the known clinical patterns of the disease.

Keywords

• C1 Inhibitor
• Complement System
• Hereditary Angioedema