Published online: March 17, 2020
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare, life-threatening disease characterized by recurrent, unpredictable, episodic swelling of the skin and/or the submucosa of intestines, and the upper airways, which usually occur first during childhood. This type of angioedema is bradykinin-mediated therefore, it does not respond to standard treatment with antihistamines and glucocorticoids. A limited choice of drugs is available for the treatment of pediatric patients with C1-INH-HAE. The replacement of the missing protein with plasma-derived C1-inhibitor (pdC1-INH) is a targeted, first-line therapy for this patient population.
In this largest-to-date, prospective follow-up of over 30 study years, recently published in The Journal of Allergy & Clinical Immunology: In Practice, Farkas et al. investigated the clinical characteristics of C1-INH-HAE and the safety of plasma-derived C1-inhibitor for the treatment of pediatric patients. Seventy pediatric patients (31 boys and 39 girls) experienced 3009 HAE attacks altogether during the observation period. In the majority of cases, HAE attacks involved the skin. HAE attacks of any location were more frequent in girls than in boys, except for genital edema. Only a few HAE attacks occurred before the age of 3. Between 6 and 12 years of age, the number of HAE attacks increased substantially. Intravenous pdC1-INH was administered to 52.3% of the patients. Four hundred and fifty-six vials were administered for acute treatment and 69 vials for prophylaxis of HAE attacks. No systemic allergic reactions, viral transmission, development of anti-C1-INH antibodies, or thromboembolic events were observed during treatment with this drug.
The clinical manifestations of C1-INH-HAE may occur at any age and may vary among the different age groups and sexes. Comprehensive, HAE-specific care including counseling, supplying targeted therapy, and regular follow-up are the cornerstones of successful management. Plasma-derived C1-INH is safe for pediatric patients with C1-INH-HAE for both acute treatment and the prophylaxis of HAE attacks.
The Journal of Allergy and Clinical Immunology: In Practice is an official journal of the AAAAI, focusing on practical information for the practicing clinician.