The Challenges in the Follow-Up and Treatment of Brazilian Children with Hereditary Angioedema.

INTRODUCTION: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis's delay has a strong impact on the patient's quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. METHODS: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. RESULTS: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. CONCLUSIONS: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.

Development of a mobile app for the evaluation of patients with chronic rhinosinusitis.

OBJECTIVE: To develop a mobile application with a standardized routine, to be used by general otolaryngologists for evaluating patients with chronic rhinosinusitis. METHODS: A systematic review was made to identify outcomes, recommendations and what tests that would be used in the routine evaluation of patients with chronic rhinosinusitis; establish an expert consensus on items to be included in this routine evaluation of patients with chronic rhinosinusitis using the Delphi method; development of an application for use on a mobile device, with the routine evaluation of patients with chronic rhinosinusitis. RESULTS: Based on the systematic review, the outcomes used in studies about chronic rhinosinusitis were identified, as well as guidelines recommendations, which showed discrepancies between them. These recommendations and outcomes were presented to specialists in chronic rhinosinusitis, until a consensus was reached. As a result of the Delphi method, the flowchart of the routine evaluation of patients with chronic rhinosinusitis was defined, and then was used for the development of the mobile application. CONCLUSION: The creation of the mobile application for evaluating patients with chronic rhinosinusitis followed an adequate methodology of elaboration made by specialists in the field of chronic rhinosinusitis, standardizing the investigation of these patients. LEVEL OF EVIDENCE: Level 5.

Impact of chronic urticaria on the quality of life of patients followed up at a university hospital.

BACKGROUND:: Chronic 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. OBJECTIVE:: To evaluate the quality of life of patients with chronic urticaria, using the Brazilian Portuguese version of the Chronic Urticaria Quality of Life Questionnaire. METHODS:: The 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. RESULTS:: The 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. CONCLUSIONS:: Chronic urticaria compromises patients' quality of life, mainly those with more severe disease or who are diagnosed with chronic autoimmune urticaria.

[Delayed pressure urticaria with systemic manifestations: Case report]. / Urticária de pressão tardia com manifestações sistêmicas: relato de caso.

Delayed Pressure Urticaria is considered a rare disease,with clinical diagnosis different from classical urticaria, with possible systemic manifestations. Therefore, it is Frequently underdiagnosed, even by specialists. In this article, the case of a patient with a typical history of pressure-induced lesions is presented. Because the patient had fever and leukocytosis, she was admitted to a hospital for investigation of infection.