Symptoms, clinical profile and management of pediatric hereditary angioedema: A single-centre experience

Objective: Hereditary Angioedema (HAE) is a rare but life-threatening disease. It is aimed to present data on the clinical characteristics of our pediatric patients with HAE, whose symptoms usually start in childhood, but the delay in diagnosis is still a serious problem.
Method: Clinical and laboratory findings, family histories, and clinical characteristics of 14 patients with HAE diagnosed in our clinic between 1998-2019 were analyzed.
Results: Half of our patients diagnosed with HAE were girls, 78.5% of them were diagnosed with HAE type 1, and 21.4% were HAE type 2. All our patients had a family history, and 10 of them were diagnosed based on their family history. The mean age at diagnosis was 9.7±4.4 years and the mean age at the onset of the first angioedema symptom was 5.3±1.8 years. The delay in diagnosis was 4.4±4.1 years. The swollen areas included extremities (78.5%), abdominal attacks (71.4%), facial edema (57.1%), and laryngeal edema (21.4%). C4 levels were low in all patients. The mean C1 esterase inhibitor level was 0.69±0.08 g/l for HAE type 2 and 0.08±0.04 g/l for HAE type 1. The mean C1 esterase inhibitor functional activity level was 18.6±10.4% in HAE type 2.
Conclusion: Early diagnosis of the disease is critical for reducing morbidity and mortality due to attacks. There are very few studies in Türkiye that focus exclusively on pediatric HAE patients. Sharing our patients’ clinical findings and treatment plans for this rare disease is crucial for bringing the disease to light and raising awareness.