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Background: Hereditary angioedema (HAE) with C1 inhibitor (C1INH) deficiency is an inherited disease characterized by sudden, recurrent episodes of edema that involve the skin, gastrointestinal tract, respiratory tract, and other organs. Objective: Because it takes a long time from the first symptoms to diagnosis, we aimed to identify HAE in untested first-degree blood relatives among some of our patients with HAE in our outpatient clinic at Hospital Universitario Clementino Fraga (HUCFF), Federal University of Rio de Janeiro. Methods: Untested first-degree relatives of patients with HAE C1INH, even those who were asymptomatic, were identified and invited to participate. Those who agreed to participate answered a specific questionnaire and had a blood sample collected for complement testing. Results: Fifty untested first-degree relatives of 30 index patients with HAE C1INH were identified, and both groups were analyzed. The mean ± standard deviation (SD) age of the index patients group was 37.08 ± 16.56 years (range, 13-73 years), with a high frequency in women (n = 24 [80.0%]). Most of them had severe (n = 23 [76.7%]) and moderate (n = 7 [23.3%]) attacks. None were asymptomatic. The mean ± SD time between the first symptoms and diagnosis was 20.2 ± 11.06 years (range, 0-48 years) in that group. In the first-degree relatives group, 30 new cases of HAE C1INH (60%) were identified. Conclusion: We found that there was a long time between early manifestations and a diagnosis of HAE. First-degree relatives of patients with HAE patients are at risk for having the disease. Sixty percent were newly diagnosed with HAE and with C1INH deficiency in our study. So, screening of family members, including individuals who were asymptomatic, is the key for earlier diagnosis and effective treatment.

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.

RESUMO Teste de contato atopico com aeroalergenos: uma ferramenta promissora no diagnostico da dermatite atopica 1 Servico de Alergia, Hospital Sao Zacharias, Rio de Janeiro, RJ. 2 Hospital Geral de Nova Iguacu, Nova Iguacu, RJ. 3 Servico de Imunologia, Hospital Universitario Clementino Fraga Filho, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ. 4 FDA Allergenic. Artigo Original Braz J Allergy Immunol. 2013;1(1):65-70. Atopy patch test with aeroallergens: a promising tool in the diagnosis of atopic dermatitis Sergio Duarte Dortas Junior, MD, MSc1,2, Soloni Afra Pires Levy, MD1, Andrea Huguenim Silva Pires, MD, MSc1, Augusto Tiaqui Abe, MD1, Solange Oliveira Rodrigues Valle, MD, PhD1,3, Vilma Perez Coelho, MD1, Ludwig Ruppert Hahnstadt, MSc4, Alfeu Tavares Franca, MD, PhD1,3 Objetivos: Avaliar a padronizacao do metodo com relacao a concentracao do aeroalergeno, tempo de oclusao, de interpretacao; e determinar a especificidade e a sensibilidade do teste de contato alergico (TCA) em relacao ao teste por puntura e a dosagem de IgE especifica, na verificacao da sensibilizacao a acaros em criancas com dermatite atopica (DA). Metodos: Foram selecionadas 72 criancas com idade entre 2 e 12 anos, acompanhadas no ambulatorio de alergia do Hospital Sao Zacharias. Estas foram submetidas a teste de puntura, dosagem de IgEs especificas e TCA para acaros (Dermatophagoides pteronyssinus, Dermatophagoides farinae e Blomia tropicalis). Os testes foram realizados em 3 grupos: (1) DA com ou sem rinite e asma, (2) Rinite e/ou asma sem DA, (3) Saudaveis (controle). Resultados: No grupo 1, 40% dos pacientes apresentaram reacao positiva. A sensibilidade foi maior nos pacientes com maior tempo de exposicao (48 h e 72 h). No grupo 2, o TCA foi mais especifico que sensivel para todos os extratos, com aumento da sensibilidade quanto maior o tempo de exposicao (72 h). No grupo 3, apenas 8,3% apresentaram positividade a algum aeroalergeno do TCA. Conclusao: O TCA mostrou ter valor diagnostico em relacao as reacoes de fase tardia a acaros (D. pteronyssinus, D. farinae e B. tropicalis), com elevada especificidade. Ele demonstrou ser um teste confiavel quando comparado aos resultados do grupo controle. Descritores: Dermatite atopica, teste de contato atopico, acaros. Objectives: To evaluate the standardization of the atopy patch test (APT) with regard to concentration of aeroallergens, occlusion time, and interpretation, and to determine the specificity and sensitivity of the method in relation to prick test and serum specific IgE determination in the investigation of dust mite sensitization in children with atopic dermatitis (AD). Methods: Seventytwo children, ranging from 2 to 12 years of age, were selected among those receiving care at the allergy outpatient clinic of Sao Zacharias Hospital. Children underwent skin prick testing, specific IgE measurements, and APT for mites (Dermatophagoides pteronyssinus, Dermatophagoides farinae, and Blomia tropicalis). Tests were performed in three groups: (1) AD with or without rhinitis and asthma; (2) rhinitis and/or asthma without AD; (3) healthy individuals (controls). Results: In group 1, 40% of the patients presented positive reactions. Sensitivity was higher in patients with longer exposure times (48 h and 72 h). In group 2, APT was more specific than sensitive for all extracts, with increasing sensitivity associated with longer times of exposure (72 h). In group 3, only 8.3% of the individuals were positive to any aeroallergen on APT. Conclusion: APT seems to have diagnostic value in identifying late phase reactions to mites (D. pteronyssinus, D. farinae, and B. tropicalis), with high specificity, and proved to be a reliable test when compared with the results obtained for controls.

BACKGROUND: Atopic Dermatitis is a chronic inflammatory skin disease. Food allergens are important in the pathogenesis in 1/3 of the cases. Several mechanisms are involved in the pathogenesis of Atopic Dermatitis. Immediate reactions are identified by both measurement of specific IgE and skin prick test. Atopy Patch Test seems to be relevant in the investigation of patients with suspected delayed-type reactions. OBJECTIVES: To evaluate the standardization of this method concerning allergen concentration, occlusion time and interpretation, and determine the specificity and sensitivity of the Atopy Patch Test according to the skin prick test and specific IgE levels in food allergy diagnosis in children with Atopic Dermatitis. METHODS: Seventy-two children, aged 2-12 years were selected and followed at the allergy clinic of the Hospital São Zacharias. Skin prick test, specific IgE and food Atopy Patch Test (cow's milk, egg, soy and wheat) were carried out. Three groups were submitted to the Atopy Patch Test: (1) Atopic Dermatitis with or without Rhinitis and Asthma; (2) Rhinitis and or Asthma without AD; (3) Healthy individuals. RESULTS: In group 1, 40% of the patients presented positive reactions. The longer the exposure time (48h and 72h), the higher the sensitivity. In group 2, the test was more specific than sensitive for all the extracts, with increased sensitivity the longer the time of exposure (72h). In group 3, 8.3% presented positive tests. CONCLUSION: APT evidenced a great diagnostic value in late-phase reactions to food, with high specificity. It showed to be a specific and reliable tool in comparison with the healthy group's results.FUNDAMENTOS: A Dermatite Atópica é uma doença inflamatória crônica da pele. Os alimentos são importantes na patogênese da doença em 1/3 dos casos. Diversos mecanismos estão envolvidos na fisiopatogenia da dermatite Atópica. As reações imediatas são identificadas pela dosagem de IgE específica e teste de puntura. O teste de contato atópico parece ter relevância na investigação de pacientes com suspeita de reação tardia. OBJETIVOS: Avaliar a padronização do método com relação à concentração do alérgeno, tempo de oclusão e de interpretação; e determinar a especificidade e a sensibilidade do teste de contato atópico em relação ao teste de puntura e a dosagem de IgE específica, no diagnóstico de alergia alimentar em crianças com dermatite Atópica. MÉTODOS: Setenta e duas crianças com 2 a 12 anos foram submetidas a teste de puntura e dosagem de IgE específicas para alimentos (leite de vaca, ovo, soja, trigo). O teste de contato atópico foi aplicado em 3 grupos: (1) Dermatite Atópica com ou sem Rinite e Asma; (2) Rinite e ou Asma sem Dermatite Atópica; (3) Saudáveis. RESULTADOS: No grupo 1, 40% dos pacientes apresentaram reação positiva. Quanto maior o tempo de exposição, maior foi a sensibilidade. No grupo 2, o teste foi mais específico que sensível para todos os extratos; com aumento da sensibilidade com maior tempo de exposição (72h). No grupo 3, 8.3% apresentaram testes positivos. CONCLUSÃO: O teste de contato atópico mostrou ter valor diagnóstico em relação às reações de fase tardia a alimentos, com elevada especificidade. Mostrou-se um teste específico e confiável ao comparar com os resultados do grupo controle.

We report the case of a 25-year-old woman with Churg-Strauss syndrome, the symptoms of which had first appeared soon after she began taking oral contraceptive at the age of sixteen. The clinical profile evolved rapidly to severe persistent asthma, nasal polyposis, perennial obstructive rhinitis, eosinophilia (peripheral/tissue) and mononeuritis. Churg-Strauss syndrome is the type of disease that demands early detection, accurate diagnosis, aggressive treatment and periodic monitoring. It should be considered in the differential diagnosis of moderate and severe persistent asthma. The case reported calls attention to possibility that there is a hormonal component and that the disease can present early onset.

Relata-se o caso de uma mulher de 25 anos com síndrome de Churg-Strauss, cujos sintomas surgiram aos dezesseis anos, logo após o início do uso de contraceptivo oral. O quadro clínico evoluiu rapidamente com asma persistente grave, polipose nasal, rinite perene obstrutiva, eosinofilia periférica e tecidual, e mononeurite. A síndrome de Churg-Strauss é uma doença que exige suspeita precoce, diagnóstico preciso, tratamento agressivo e monitoramento periódico, devendo ser considerada no diagnóstico diferencial de asma persistente moderada e grave. O caso relatado chama a atenção para possível participação hormonal e surgimento em idade precoce.We report the case of a 25-year-old woman with Churg-Strauss syndrome, the symptoms of which had first appeared soon after she began taking oral contraceptive at the age of sixteen. The clinical profile evolved rapidly to severe persistent asthma, nasal polyposis, perennial obstructive rhinitis, eosinophilia (peripheral/tissue) and mononeuritis. Churg-Strauss syndrome is the type of disease that demands early detection, accurate diagnosis, aggressive treatment and periodic monitoring. It should be considered in the differential diagnosis of moderate and severe persistent asthma. The case reported calls attention to possibility that there is a hormonal component and that the disease can present early onset.

Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well documented. We aim to determine the prevalence of AAB so that individuals at risk of developing autoimmune diseases can be identified. Fifteen patients with Hereditary Angioedema attended at Clementino Fraga Filho University Hospital accepted to participate in this study. Prevalence of AAB was 40%. Our data indicate high prevalence of AAB in patients with Hereditary Angioedema. Large-scale studies should be considered to determine the significance of these AAB in the follow-up care of patients with Hereditary Angioedema.O Angioedema Hereditário é uma doença autossômica dominante. A pesquisa de rotina para autoanticorpos não é recomendada para pacientes com Angioedema Hereditário; entretanto, a prevalência desses anticorpos em pacientes com Angioedema Hereditário não está bem documentada. Objetivamos determinar a prevalência de autoanticorpos para identificar indivíduos sob risco de desenvolver doenças autoimunes. Quinze pacientes com Angioedema Hereditário atendidos no Hospital Universitário Clementino Fraga Filho aceitaram participar do estudo. A prevalência de autoanticorpos foi de 40%. Nossos dados indicam alta prevalência de autoanticorpos em pacientes com Angioedema Hereditário. Estudos de maior escala deveriam ser considerados para determinar a significância desses autoanticorpos no acompanhamento clínico de pacientes com Angioedema Hereditário.

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.

BACKGROUND: Atopic Dermatitis is a chronic inflammatory skin disease. Food allergens are important in the pathogenesis in 1/3 of the cases. Several mechanisms are involved in the pathogenesis of Atopic Dermatitis. Immediate reactions are identified by both measurement of specific IgE and skin prick test. Atopy Patch Test seems to be relevant in the investigation of patients with suspected delayed-type reactions. OBJECTIVES: To evaluate the standardization of this method concerning allergen concentration, occlusion time and interpretation, and determine the specificity and sensitivity of the Atopy Patch Test according to the skin prick test and specific IgE levels in food allergy diagnosis in children with Atopic Dermatitis. METHODS: Seventy-two children, aged 2-12 years were selected and followed at the allergy clinic of the Hospital São Zacharias. Skin prick test, specific IgE and food Atopy Patch Test (cow's milk, egg, soy and wheat) were carried out. Three groups were submitted to the Atopy Patch Test: (1) Atopic Dermatitis with or without Rhinitis and Asthma; (2) Rhinitis and or Asthma without AD; (3) Healthy individuals. RESULTS: In group 1, 40% of the patients presented positive reactions. The longer the exposure time (48h and 72h), the higher the sensitivity. In group 2, the test was more specific than sensitive for all the extracts, with increased sensitivity the longer the time of exposure (72h). In group 3, 8.3% presented positive tests. CONCLUSION: APT evidenced a great diagnostic value in late-phase reactions to food, with high specificity. It showed to be a specific and reliable tool in comparison with the healthy group's results. FUNDAMENTOS: A Dermatite Atópica é uma doença inflamatória crônica da pele. Os alimentos são importantes na patogênese da doença em 1/3 dos casos. Diversos mecanismos estão envolvidos na fisiopatogenia da dermatite Atópica. As reações imediatas são identificadas pela dosagem de IgE específica e teste de puntura. O teste de contato atópico parece ter relevância na investigação de pacientes com suspeita de reação tardia. OBJETIVOS: Avaliar a padronização do método com relação à concentração do alérgeno, tempo de oclusão e de interpretação; e determinar a especificidade e a sensibilidade do teste de contato atópico em relação ao teste de puntura e a dosagem de IgE específica, no diagnóstico de alergia alimentar em crianças com dermatite Atópica. MÉTODOS: Setenta e duas crianças com 2 a 12 anos foram submetidas a teste de puntura e dosagem de IgE específicas para alimentos (leite de vaca, ovo, soja, trigo). O teste de contato atópico foi aplicado em 3 grupos: (1) Dermatite Atópica com ou sem Rinite e Asma; (2) Rinite e ou Asma sem Dermatite Atópica; (3) Saudáveis. RESULTADOS: No grupo 1, 40% dos pacientes apresentaram reação positiva. Quanto maior o tempo de exposição, maior foi a sensibilidade. No grupo 2, o teste foi mais específico que sensível para todos os extratos; com aumento da sensibilidade com maior tempo de exposição (72h). No grupo 3, 8.3% apresentaram testes positivos. CONCLUSÃO: O teste de contato atópico mostrou ter valor diagnóstico em relação às reações de fase tardia a alimentos, com elevada especificidade. Mostrou-se um teste específico e confiável ao comparar com os resultados do grupo controle.

We report the case of a 25-year-old woman with Churg-Strauss syndrome, the symptoms of which had first appeared soon after she began taking oral contraceptive at the age of sixteen. The clinical profile evolved rapidly to severe persistent asthma, nasal polyposis, perennial obstructive rhinitis, eosinophilia (peripheral/tissue) and mononeuritis. Churg-Strauss syndrome is the type of disease that demands early detection, accurate diagnosis, aggressive treatment and periodic monitoring. It should be considered in the differential diagnosis of moderate and severe persistent asthma. The case reported calls attention to possibility that there is a hormonal component and that the disease can present early onset.

Background Angioedema is a highly heterogeneous group of conditions and is characterized by sudden, pronounced swelling of the lower dermis and subcutaneous. Because of its frequent coexistence with urticaria, it is often classified in the same manner as urticaria. However, it also includes categories not associated with urticaria. Angioedema without urticaria is characterized by hereditary and acquired angioedema and histaminergic and nonhistaminergic angioedema. The prevalence of subtypes of angioedema without urticaria was estimated at the Clinical Immunology outpatient service of an University Hospital, in Rio de Janeiro.

Methods We report a case of drug rash induced by levothyroxine and currently oral desensitization. A 31 year-old woman had been diagnosed as Hashimoto’s Thyroiditis. She was having levothyroxine for 9 years when she begun to present bilateral eyelids maculopapular rash. Blood exams and physical examination were normal except for the eyelids rash. As she stopped using levothyroxine, the rash has disappeared. Her endocrinologist prescribed her other brands of levothyroxine, and the patient reported the same reaction.

Background Progesterone induced dermatitis is a rare autoimmune response to endogenous progesterone that usually occurs in fertile females, in the third decade. Skin lesions occur periodically during the luteal phase of the menstrual cycle due to increase of progesterone, the symptom usually occurs 3-10 days prior to the onset of menstrual flow and resolve 2 days into menses. It may present a variety of cutaneous and mucosal manifestations, from a mild urticarial to an anaphylaxis.

Background Chronic spontaneous urticaria (CSU) is more common in adults, especially middle-aged women. The condition resolves spontaneously within 6 months in 30 to 55% of patients but can persist for years in others. It has a devastating effect on the quality of life of those who experience it. Although the mechanisms are not fully elucidated, anti IgE recombinant humanized monoclonal (Omalizumab) has been recommended, according to the latest guidelines EAACI/GA2LEN/EDF & WAO, with encouraging results in management of refractory CSU as opposed to the usual and alternative therapies.

Short-term prophylaxis (STP) with plasma derived human C1 inhibitor concentrate (pdhC1-INH) in two pregnant women with hereditary angioedema (HAE): an experience in Rio de Janeiro – Brazil Solange Oliveira Rodrigues Valle, Maria Luiza Oliva Alonso, Sergio Duarte Dortas Junior, Soloni Afra Pires Levy, Ana Paula Ferracciu Coutinho Millet, Alfeu Tavares Franca, Alfeu Tavares Franca, Ana Luiza Ribeiro Bard De Carvalho