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.