Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review.

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review* / Angioedema hereditario tipo III (estrogeno-dependente): relato de tres casos e revisao da literatura

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

Neste artigo são relatados três casos de angioedema hereditário do tipo III (estrógeno-dependente ou com inibidor de C1 normal), que foi inicialmente descrito em mulheres da mesma família, em associação com condições de alto nível estrogênico, como uso de anticoncepcionais orais e gravidez. Não há alteração do inibidor de C1, como acontece nos outros tipos de angioedema hereditário, e são observadas mutações no gene codificador do fator XII da coagulação em várias pacientes. O diagnóstico atualmente é eminentemente clínico e o tratamento consiste na suspensão dos fatores desencadeantes e controle dos sintomas agudos. Também é apresentada breve revisão da fisiopatogenia, quadro clínico, alterações genéticas e tratamento.

Quality of life assessment in patients with chronic urticaria.

BACKGROUND: Chronic urticaria affects patients by interfering with their daily activities, damaging their self-esteem and negatively affecting their interpersonal relationships. Healthcare professionals may underestimate the impact of the condition on patients' quality of life. OBJECTIVES: To evaluate quality of life using one generic and one disease-specific health-related quality of life instrument; to compare quality of life between the different clinical types of chronic urticaria and to evaluate whether angioedema further impairs quality of life. METHODS: Sixty-two patients with chronic urticaria, who had had signs or symptoms of the disease within the preceding week, were divided into groups according to whether they had ordinary chronic urticaria, physical chronic urticaria or mixed chronic urticaria. RESULTS: There was a predominance of women in this study (72.6%). The mean age of patients was 39.8 years and angioedema was associated with chronic urticaria in 75.8% of cases. Associated angioedema was more commonly found in patients with ordinary chronic urticaria (p=0.011) and in women (p=0.024). With respect to the different clinical types, 32.3% of the patients had ordinary chronic urticaria, 27.4% had physical chronic urticaria and 40.3% had mixed chronic urticaria. Mean overall score for the disease-specific questionnaire was 10.4. In this questionnaire, the most affected domains were "symptoms and feelings" and "daily activities", while the most affected domains in the SF-36 were "physical role" and "vitality". Quality of life was found to be impaired in women, in patients of up to 30 years of age, in those attending a first consultation, in those with higher education levels, in patients who had had the disease for up to one year and in those with angioedema. CONCLUSION: Chronic urticaria affects quality of life, as measured using a disease-specific questionnaire and a generic questionnaire. There was no statistically significant difference between the clinical types. The presence of angioedema impaired patients' quality of life even further. There was a statistically significant correlation between the scores obtained using the disease-specific questionnaire and those obtained using the generic questionnaire.

Estudo da qualidade de vida nos pacientes com urticária crônica / Quality of life assessment in patients with chronic urticaria

FUNDAMENTOS: A urticária crônica compromete o doente por interferir nas atividades diárias, prejudicar a autoestima e as relações interpessoais. Os profissionais de saúde subestimam seu impacto na qualidade de vida dos doentes. OBJETIVOS: Avaliar a qualidade de vida com questionário específico e genérico. Compará-la entre os tipos clínicos de urticária crônica e avaliar se o angioedema piora a qualidade de vida. MÉTODOS: Participaram 62 doentes com urticária crônica, com sinais e sintomas da doença até 7 dias da consulta, que foram divididos em urticária crônica comum, urticária crônica física e urticária crônica mista. RESULTADOS: Observou-se predominância de mulheres (72,6 por cento), idade média de 39,8 anos, angioedema associado em 75,8 por cento dos doentes. Apresentaram mais angioedema doentes com urticária crônica comum (p=0,011) e mulheres (p=0,024). Quanto aos tipos clínicos, 32,3 por cento apresentaram urticária crônica comum, 27,4 por cento urticária crônica física e 40,3 por cento urticária crônica mista. O escore médio total do questionário específico foi 10,4. No questionário específico, os domínios mais comprometidos foram "Sintomas e sentimentos" e "Atividades diárias", e, no SF-36, "Aspectos físicos" e "Vitalidade". Houve comprometimento da qualidade de vida nas mulheres, nos doentes com até 30 anos, em primeira consulta, nos mais escolarizados, naqueles com até 1 ano de doença e naqueles com angioedema. CONCLUSÃO: A urticária crônica compromete a qualidade de vida medida pelos questionários específico e genérico. Não houve diferença estatisticamente significante na qualidade de vida entre os tipos clínicos. A presença do angioedema conferiu pior qualidade de vida aos doentes. Houve correlação estatisticamente significante entre os escores do questionário específico e do questionário genérico.

BACKGROUND: Chronic urticaria affects patients by interfering with their daily activities, damaging their self-esteem and negatively affecting their interpersonal relationships. Healthcare professionals may underestimate the impact of the condition on patients' quality of life. OBJECTIVES: To evaluate quality of life using one generic and one disease-specific health-related quality of life instrument; to compare quality of life between the different clinical types of chronic urticaria and to evaluate whether angioedema further impairs quality of life. METHODS: Sixty-two patients with chronic urticaria, who had had signs or symptoms of the disease within the preceding week, were divided into groups according to whether they had ordinary chronic urticaria, physical chronic urticaria or mixed chronic urticaria. RESULTS: There was a predominance of women in this study (72.6 percent). The mean age of patients was 39.8 years and angioedema was associated with chronic urticaria in 75.8 percent of cases. Associated angioedema was more commonly found in patients with ordinary chronic urticaria (p=0.011) and in women (p=0.024). With respect to the different clinical types, 32.3 percent of the patients had ordinary chronic urticaria, 27.4 percent had physical chronic urticaria and 40.3 percent had mixed chronic urticaria. Mean overall score for the disease-specific questionnaire was 10.4. In this questionnaire, the most affected domains were "symptoms and feelings" and "daily activities", while the most affected domains in the SF-36 were "physical role" and "vitality". Quality of life was found to be impaired in women, in patients of up to 30 years of age, in those attending a first consultation, in those with higher education levels, in patients who had had the disease for up to one year and in those with angioedema. CONCLUSION: Chronic urticaria affects quality of life, as measured using a disease-specific questionnaire and a generic questionnaire. There was no statistically significant difference between the clinical types. The presence of angioedema impaired patients' quality of life even further. There was a statistically significant correlation between the scores obtained using the disease-specific questionnaire and those obtained using the generic questionnaire.

Dapsona como alternativa no tratamento de urticária crônica não responsiva a anti-histamínicos / Dapsone as an alternative to the treatment of chronic urticaria non-responsive to antihistamines

FUNDAMENTOS: A urticária crônica é dermatose que interfere negativamente na qualidade de vida de seus portadores. O tratamento clássico com anti-histamínicos muitas vezes é ineficaz. OBJETIVO: Avaliar a eficácia e a segurança do uso da dapsona no tratamento da urticária crônica não responsiva a anti-histamínicos. METÓDOS: Realizou-se estudo retrospectivo mediante a revisão de prontuários de pacientes atendidos em ambulatório especializado em urticária entre novembro de 1996 e março de 2007. RESULTADOS: Foram avaliados 20 pacientes com urticária crônica de difícil controle, que receberam tratamento com dapsona na dose de 100mg/dia. Associados à dapsona, foram mantidos anti-histamínicos em altas doses, que, isoladamente, não controlavam os sintomas. Quatorze pacientes (70 por cento) responderam com melhora do quadro, observada tanto na diminuição ou desaparecimento das lesões quanto na redução do prurido; três (15 por cento) não obtiveram nenhum sucesso com a medicação; e três (15 por cento) tiveram o tratamento suspenso em decorrência de efeitos colaterais. CONCLUSÃO: Neste estudo, conclui-se que a dapsona é opção segura e eficaz para pacientes com urticária crônica grave não responsiva a anti-histamínicos.

BACKGROUND: Chronic urticaria is a dermatosis that negatively interferes in quality of life of affected individuals. The classic treatment with antihistamines is many times ineffective. OBJECTIVE: To evaluate the efficacy and safety of using dapsone in the treatment of chronic urticaria non-responsive to antihistamines. METHODS: A retrospective study was carried out by reviewing the medical charts of patients seen at an outpatient’s clinic specialized in urticaria, between November 1996 and March 2007. RESULTS: Twenty patients with difficult to control chronic urticaria and who were treated with 100 mg/day of dapsone were evaluated. High doses of antihistamines were maintained and associated with dapsone. Antihistamines alone did not control symptoms. Fourteen patients (70 percent) presented good results, observed in the reduction or disappearance of lesions as well as in reduced pruritus; three patients (15 percent) did not get any success with the medication; and three (15 percent) had the treatment interrupted due to side effects. CONCLUSION: In this study it can be concluded that dapsone is a safe and efficient option for patients presenting severe chronic urticaria non-responsive to antihistamines.