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J Eur Acad Dermatol Venereol. 2013 Mar;27(3):e338-44. doi: 10.1111/j.1468-3083.2012.04670.x. Epub 2012 Aug 7.

Hereditary angioedema: first report of the Brazilian registry and challenges.

Author information

1
Faculty of Medicine ABC, and Department of Dermatology, Faculty of Medicine, University of São Paulo, São Paulo Federal University of Rio de Janeiro, Rio de Janeiro Federal University of Sao Jose de Rio Preto, and State University of Campinas, São Paulo Federal University of Minas Gerais, Minas Gerais Federal University of Bahia, Bahia, Brazil.

Abstract

BACKGROUND:

Hereditary Angio-oedema (HAE) is a serious medical condition caused by a rare autosomal dominant genetic disorder, in which C1 inhibitor (C1-INH) function is reduced. There is no organized information on the HAE patient population in Brazil.

OBJECTIVE:

The Brazilian Registry was established to disseminate diagnostic access, and to better understand the main features of the disease in our country and its clinical impact.

METHODS:

A questionnaire was prepared and sent to specialists. The completed questionnaires were forwarded to the coordinating site and then entered into the Registry. Samples from patients with an unconfirmed diagnosis were tested for C1 inhibitor and C4 levels.

RESULTS:

From 2006 to 2010, 210 patients (133 females; mean age, 30 ±17 years) were included. The median age of onset of symptoms and age at diagnosis were 6.5 and 21 years, respectively; 80.9% of the patients had subcutaneous oedema, 54% gastrointestinal and 35.7% respiratory symptoms (21% had laryngeal oedema). Laparotomy due to the disease was performed in 6.2% of the patients. The majority of patients had Type I HAE of moderate severity. Twenty-seven per cent did not receive treatment; 53% were treated with danazol alone.

CONCLUSION:

A paucity of patients with Type II HAE and a high frequency of laparotomy were observed, highlighting the need for better diagnosis in Brazil. HAE related educational activities, improved diagnosis and access to available therapy are needed in Brazil.

[Indexed for MEDLINE]

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