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A case of hereditary angioedema in a 7-year-old korean girl

OPEN Allergy, asthma & immunology research | 2 Jan 2013

M Shin and K Ahn
Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with HAE who had recurrent episodes of swelling of the extremities and face without urticaria and pruritus. Her great grandmother had suffered from the same symptoms. The level of serum C4 was 8.01 mg/dL (normal: 10-40 mg/dL). The level of C1 inhibitor was 5.0 mg/dL (normal: 18-40 mg/dL). To our knowledge, this is the first pediatric case with typical clinical symptoms of HAE and C1 esterase inhibitor deficiency in Korea.
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Concepts
Hereditary angioedema, C1-inhibitor, Cetirizine, Allergy, Gastroenterology, Urticaria, Angioedema
MeSH headings
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