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• W1526378045 abstract "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." @default.
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• W1526378045 date "2012-08-07" @default.
• W1526378045 modified "2023-10-17" @default.
• W1526378045 title "Hereditary angioedema: first report of the Brazilian registry and challenges" @default.
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• W1526378045 doi "https://doi.org/10.1111/j.1468-3083.2012.04670.x" @default.
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