Allergy Asthma Immunol Res.  2013 Jan;5(1):59-61. 10.4168/aair.2013.5.1.59.

A Case of Hereditary Angioedema in a 7-Year-Old Korean Girl

Affiliations
  • 1Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.
  • 2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kmaped@skku.edu

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.

Keyword

Hereditary angioedema; angioedema; young children; Korea

MeSH Terms

Adolescent
Angioedema
Angioedemas, Hereditary
Complement C1 Inhibitor Protein
Edema
Extremities
Humans
Korea
Pruritus
Skin
Urticaria
Complement C1 Inhibitor Protein
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