BACKGROUNDChronic urticaria is a debilitating disease that considerably affects
health-related quality of life, and the Chronic Urticaria Quality of Life
Questionnaire is the only questionnaire specifically designed for its
evaluation.OBJECTIVETo evaluate the quality of life of patients with chronic urticaria, using the
Brazilian Portuguese version of the Chronic Urticaria Quality of Life
Questionnaire.METHODSThe Chronic Urticaria Quality of Life Questionnaire was self-administered in
112 chronic urticaria patients and disease activity was assessed through the
Urticaria Activity Score. Clinical and socio-demographic characteristics of
patients were studied, such as: age, sex, etiologic diagnosis of chronic
urticaria, duration of disease and Urticaria Activity Score.RESULTSThe population studied was composed 85.72% of women with a mean age of 46
years (18-90), while the median disease duration period was 10 years (3
months-60 years). Regarding the etiologic diagnosis, 48.22% had chronic
spontaneous urticaria; 22.32% associated with inducible urticaria, 28.57%
with chronic autoimmune urticaria, and 23.21% had physical urticaria alone.
Disease activity evaluated using the Urticaria Activity Score was 1.04
± 1.61 (0-6). The total score for the Chronic Urticaria Quality of
Life Questionnaire was 36 (0-100) and dimension I (sleep/mental
status/eating) had a greater impact on quality of life. The items with the
highest mean scores were nervousness and shame over lesions, while the items
with the lowest scores were lip swelling and limitations on sporting
activities.CONCLUSIONSChronic urticaria compromises patients' quality of life, mainly those with
more severe disease or who are diagnosed with chronic autoimmune
urticaria.
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.
Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. Methods: We studied 5 Brazilian families with index female patients who presented with recurrent angioedema with normal C1-INH and C4 levels. Genomic DNA was isolated from whole blood and PCR was performed. Mutations were detected by the sequencing of exon 9 of the F12 gene and allelic discrimination. Results: The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women). Mean age at onset of symptoms among the FXII-HAE patients was 13.8 years (range 6-25 years). Recurrent abdominal pain (100%) and subcutaneous angioedema (87.5%) were the most frequent clinical presentations. Two patients presented with associated laryngeal edema. In keeping with previous observations in patients with both C1-INH-HAE and HAE with normal C1-INH, all 7 women with FXII-HAE reported triggering or worsening of symptoms upon intake of estrogen-containing oral contraceptives and/or pregnancy. Conclusions: We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with normal C1-INH in patients with recurrent attacks of angioedema and/or abdominal pain. A higher frequency of abdominal pain attacks and onset of symptoms at a younger age were observed among Brazilian patients when compared to those from other parts of the world.
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