Eliana Toledo

Hereditary angioedema: quality of life in Brazilian patients

OBJECTIVE: Hereditary angioedema is a serious medical condition caused by a rare autosomal dominant genetic disorder and it is associated with deficient production or dysfunction of the C1 esterase inhibitor. In most cases, affected patients experience unexpected and recurrent crises of subcutaneous, gastrointestinal and laryngeal edema. The unpredictability, intensity and other factors associated with the disease impact the quality of life of hereditary angioedema patients. We evaluated the quality of life in Brazilian hereditary angioedema patients. METHODS: Patients older than 15 years with any severity of hereditary angioedema and laboratory confirmation of C1 inhibitor deficiency were included. Two questionnaires were used: a clinical questionnaire and the SF-36 (a generic questionnaire). This protocol was approved by the Ethics Committee of Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. RESULTS: The SF-36 showed that 90.4% (mean) of all the patients had a score below 70 and 9.6% had scores equal to or higher than 70. The scores of the eight dimensions ranged from 51.03 to 75.95; vitality and social aspects were more affected than other arenas. The internal consistency of the evaluation was demonstrated by a Cronbachs alpha value above 0.7 in seven of the eight domains. CONCLUSIONS: In this study, Brazilian patients demonstrated an impaired quality of life, as measured by the SF-36. The most affected domains were those related to vitality and social characteristics. The generic SF-36 questionnaire was relevant to the evaluation of quality of life; however, there is a need for more specific instruments for better evaluation.

Association between obesity and asthma among teenagers

CONTEXT AND OBJECTIVE Obesity and asthma are serious and growing problems. Since adipose tissue produces inflammatory substances, the aim of this study was to estimate the prevalence of asthma among students at schools in São José do Rio Preto (Phase 1), and to corroborate the hypothesis for an association between obesity and asthma among these students (Phase 2). DESIGN AND SETTING Cross-sectional study at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS The study consisted of two successive and dependent stages. Phase I was a cross-sectional study on 4103 randomly selected students (13-14 years old), to determine the prevalence and severity of asthma. Phase II was an analytical cross-sectional study on 431 students (190 asthmatics and 231 non-asthmatics) from Phase I, to evaluate the hypothesis of an association between obesity measured by the body mass index (BMI) and asthma. To diagnose asthma and obesity, the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC) and the chart from the Centers for Disease Control (CDC; 2000) were used. The data were analyzed using Students t test. RESULTS We found that 5.6% of the students analyzed in Phase I were asthmatic. The BMI among the asthmatic students (21.84 kg/m(2)) was higher than the BMI among the non-asthmatics (21.73 kg/m(2)), although the p value was 0.766. CONCLUSION In our study group, we did not find any association between increased BMI and the prevalence of asthma.

Phadiatop® in the diagnosis of respiratory allergy in children: Allergy Project - PROAL

OBJETIVO: Avaliar a positividade do Phadiatop® em criancas acompanhadas em servicos brasileiros de alergologia e compara-la aos resultados de IgE serica especifica a alergenos inalantes e alimentares. CASUISTICA E METODO: Em 457 criancas acompanhadas em servicos de alergia pediatrica e um grupo de criancas controle nao-alergicas (n = 62), distribuidas em cinco faixas etarias, foram determinados em amostra de soro: Phadiatop® e IgE especifica (RAST) a alergenos inalantes e alimentares (UniCAP - Pharmacia®). RESULTADOS: O Phadiatop® foi positivo em 305 criancas atopicas (67,6%) e em 25,8% das controles (p < 0,001). Entre as criancas atopicas, a distribuicao de positividade variou de acordo com a faixa etaria: 7,9% (24/305) entre as abaixo de 2 anos, 15,4% (47/305) nas de 2 a 3 anos, 22,0% (67/305) nas de 3 a 4 anos, 19,3% (59/305) nas de 4 a 5 anos e 35,4% (108/305) nas de 5 a 12 anos. Nao houve concordância entre os alergenos alimentares e a presenca de Phadiatop® positivo. O estudo da relacao entre os RAST positivos para alergenos inalados e o Phadiatop® positivo mostrou melhores indices com os acaros domiciliares (D. pteronyssinus, D. farinae e Blomia tropicalis). CONCLUSOES: O Phadiatop®e metodo util no diagnostico de alergia aos acaros domiciliares.

Doctors' awareness concerning primary immunodeficiencies in Brazil

BACKGROUND PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. The latter is what we aimed to evaluate in Brazil. METHODS Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers. RESULTS A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. The mean score of correct answers for the 25 clinical situations was 48.08% (±16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately. CONCLUSIONS There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs.

Icatibant, an inhibitor of bradykinin receptor 2, for hereditary angioedema attacks: prospective experimental single-cohort study

CONTEXT AND OBJECTIVE Hereditary angioedema (HAE) with C1 inhibitor deficiency manifests as recurrent episodes of edema involving the skin, upper respiratory tract and gastrointestinal tract. It can be lethal due to asphyxia. The aim here was to evaluate the response to therapy for these attacks using icatibant, an inhibitor of the bradykinin receptor, which was recently introduced into Brazil. DESIGN AND SETTING Prospective experimental single-cohort study on the efficacy and safety of icatibant for HAE patients. METHODS Patients with a confirmed HAE diagnosis were enrolled according to symptoms and regardless of the time since onset of the attack. Icatibant was administered in accordance with the protocol that has been approved in Brazil. Symptom severity was assessed continuously and adverse events were monitored. RESULTS 24 attacks in 20 HAE patients were treated (female/male 19:1; 19-55 years; median 29 years of age). The symptoms were: subcutaneous edema (22/24); abdominal pain (15/24) and upper airway obstruction (10/24). The time taken until onset of relief was: 5-10 minutes (5/24; 20.8%); 10-20 (5/24; 20.8%); 20-30 (8/24; 33.4%); 30-60 (5/24; 20.8%); and 2 hours (1/24; 4.3%). The time taken for complete resolution of symptoms ranged from 4.3 to 33.4 hours. Adverse effects were only reported at injection sites. Mild to moderate erythema and/or feelings of burning were reported by 15/24 patients, itching by 3 and no adverse effects in 6. CONCLUSION HAE type I patients who received icatibant responded promptly; most achieved improved symptom severity within 30 minutes. Local adverse events occurred in 75% of the patients.

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis

Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the “Associação Brasileira de Alergia e Imunologia (ASBAI)” and the “Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)” has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.

BACKGROUND Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. METHODS We evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. RESULTS Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971_1018+24del72 deletion was found in 2 patients. The mean age at onset of symptoms in patients with FXII-HAE was 21.1 years. The most common symptoms were subcutaneous edema (85.8% of patients), abdominal pain attacks (69.7%), and upper airway edema (32.3%). Of male individuals carrying F12 mutations, 53.3% (16 of 30) were symptomatic. Compared with reports from Europe, fewer female patients (68.6%) reported an influence of estrogen on symptoms. CONCLUSIONS Our study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH.