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

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.

Cross-cultural adaptation of the Brazilian-Portuguese version of the chronic urticaria quality-of-life questionnaire - CU-Q2oL.

BACKGROUND: Chronic urticaria (CU) is a debilitating skin disorder that affects patients' health related quality of life and the only questionnaire prepared specifically to CU is the Chronic Urticaria Quality of Life Questionnaire (CU-Q(2)oL). OBJECTIVE: The purpose of this study was to cross-culturally adapt and validate the CU-Q(2)oL Brazilian-Portuguese version. METHODS: Forward and back translation by three bilingual translators followed by pre-test was used to adapt the questionnaire. The CU-Q(2)oL was self-administered along with the Dermatology Life Quality Index (DLQI) in 112 patients with CU. Disease activity was assessed using the Urticaria Activity Score. Factor analysis was used to identify scales of the Brazilian portuguese CU-Q(2)oL. Internal consistency, convergent validity and known-group validity was determined. Reproducibility was evaluated by interclass correlation coefficient (ICC). Multiple linear regression was used to determine the predicting factors of CU-Q(2)oL results. RESULTS: Factor analysis revealed a three-dimensional structure: sleep/mental status/eating (I), pruritus/impact on life activities (II) and swelling/limits/look (III), which explained 52.49% of the total variance. All scales showed excellent internal consistency. External construct validity was supported by correlations between the CU-Q(2)oL and DLQI. The tool was found to be able to differentiate between patients with high and low levels of urticaria activity. Test-retest reliability was good to excellent (ICC = 0.69-0.86). Disease severity and urticaria type were the only factors predicting results. CONCLUSIONS: The CU-Q(2)oL Brazilian portuguese version was easily filled out, well accepted by the patients, demonstrated an acceptable validity and reliability and might be used to evaluate treatment outcomes and in clinical research.