Introduction:
Hereditary angioedema (HAE) is an uncommon primary immunodeficiency, clinically characterized by recurrent, non-pruritic oedema involving the face, extremities, genitalia and upper airways.1Occasionally this disease may manifest with pain abdomen due to oedema involving gastrointestinal tract or an acute and life-threatening airway obstruction due to laryngeal oedema.2,3 The disease often starts in childhood, worsens at puberty and may persist throughout life.2,4–6 Detection of low serum levels of C1-esterase inhibitor (C1-INH) (quantitative and functional) along with low serum C4 are suggestive of a diagnosis of HAE.5–7
HAE is a rare genetic disorder most often caused by mutations in Serpin family G member 1 (SERPING1) gene that leads to deficiency of C1-INH protein.8 The disease is inherited in an autosomal dominant manner. However, spontaneous occurrences have also been reported in up to a quarter of patients2 Epidemiologic studies suggest that the prevalence varies from 1:10,000 to 1:150,000.9–12 HAE has been reported infrequently from developing countries.13–21 There are no long-term follow-up studies and no data on genetics of HAE from India. In this study we report our experience with HAE over last 2 decades. To the best of our knowledge, this would be one of the longest follow-up studies on paediatric HAE.