Tohoku J. Exp. Med., 2024 January, 262(1)

Clinical Evaluation of Pediatric Patients with Hereditary Angioedema

Ayse Kirmizitas Aydogdu¹ and Gizem Urel Demir²

¹Mersin City Training and Research Hospital Pediatric Allergy and Immunology, Mersin, Turkey
²Mersin City Training and Research Hospital Pediatric Genetics, Mersin, Turkey

Hereditary angioedema is a rare, potentially life-threatening disease. There is a lack of data describing the clinical course of hereditary angioedema (HAE) in children. We aimed to evaluate the clinical characteristics of pediatric patients with hereditary angioedema: The age of disease onset, age at diagnosis, the frequency of angioedema attacks, the total number of attacks before diagnosis, the regions where angioedema attacks were observed, accompanying abdominal pain, and serum levels of C4 and C1 esterase inhibitor were obtained and recorded. In addition, the results of SERPING1 (C1INH) gene sequence analysis of the patients in this group were also collected from medical records and recorded. While none of the patients reported a skin rash as a symptom of attack, there was formication observed in the region of angioedema in 46.9% (n = 15) of the patients and pruritus in 6.2% (n = 2) of the patients. At disease onset, the complaints of the patients regarding location of edema were on the hands of 32.3% (n = 10), on the feet of 9.7% (n = 3), on the faces of 25.7% (n = 8), and abdominal attacks in 32.3% of the patients (n = 10). Four different variants, one of which was novel, were detected in the SERPING1 gene in eight different families. The results of this study suggest that hereditary angioedema is diagnosed only when the patient requests examination following recurrent angioedema. Severe laryngeal edema attacks in patients without a diagnosis of HAE are fatal at a higher rate than attacks in patients with a diagnosis. Thus, awareness of the symptoms of HAE is necessary, and correct diagnosis is essential to proper treatment.

Key words —— abdominal attack; erythema marginatum; hereditary angioedema; SERPING1

Tohoku J. Exp. Med., 2024 January, 262(1), 23-27.

Correspondence: Aye Krmzta Aydodu, M.D., Mersin City Training and Research Hospital Pediatric Allergy and Immunology, Korukent Mah. 96015 Sok. Mersin Entegre Salk Kamps, 33240 Toroslar/Mersin, Turkey.

e-mail: ayse63aydogdu@hotmail.com