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O angioedema hereditário (AEH) é uma doença de herança autossômica dominante, potencialmente fatal, caracterizado por episódios recorrentes de edema do tecido subcutâneo, trato gastrointestinal e vias aéreas superiores, decorrente da vasodilatação e aumento da permeabilidade vascular causadas pela liberação aumentada de bradicinina. Na maior parte dos pacientes, o AEH é causado por mutação no gene SERPING1, que codifica a proteína inibidor de C1 (C1-INH). O C1-INH inibe várias vias metabólicas, incluindo a via de contato. Sua deficiência causa ativação do sistema calicreína-cinina, levando a produção aumentada de bradicinina e angioedema. Prevenção de crises de angioedema é um dos principais objetivos no manejo de pacientes portadores de angioedema hereditário. O presente estudo teve por objetivo investigar os efeitos de uma intervenção sistemática para pacientes portadores de AEH, em frequência de crises de angioedema e qualidade de vida. Trinta e três pacientes portadores de AEH com deficiência do C1-INH (AEH-C1-INH), pertencentes a uma única família participaram de um programa multidisciplinar coordenado por uma alergista/imunologista. Crises de angioedema antes de iniciar o programa foram avaliadas através de entrevistas, registros médicos e de prontuários do Serviço de Emergência. Após inclusão no estudo, as crises foram registradas prospectivamente por pacientes ou cuidadores em um diário de crises. O número médio de crises por mês nos 12 meses pré-intervenção foi comparado ao número médio de crises em 8 e 14 meses durante o estudo. Questionários padronizados e validados foram utilizados para determinar qualidade de vida, incluindo questionário específico para AEH (HAE-QoL), como também para avaliar condições psicológicas e prejuízo ao trabalho, aplicados na primeira consulta do programa, em 8 e 14 meses durante a intervenção. Os dados foram armazenados na plataforma REDCap e analisados por modelos bayesianos ajustados por regressão dupla de Poisson. Como resultado da intervenção, o número médio de crises diminuiu significantemente de 1,15 pré intervenção para 0,25 e 0,23, em 8 e 14 meses do estudo, com média de diminuição de -0.89 (95% ICr - 1.21;-0.58) e -0.92 (95% ICr -1.22; -0.60), respectivamente (95% intervalo de credibilidade [ICr] excluindo 0). HAE-QoL demonstrou um aumento total médio de 15,2 (IC 1,23;29,77) e 26 (95% IC 14,56;39,02) aos 8 e 14 meses do estudo, comparado ao valor médio preintervenção, revelando melhora acentuada na qualidade de vida. Uma melhora significante do bem-estar emocional e redução de depressão, estresse e ansiedade foram observados aos 14 meses. Em conclusão, uma abordagem sistemática integrando cuidados específicos de AEH com tratamento de aspectos psicológicos diminuiu o número de crises e melhorou a qualidade de vida dos pacientes, alvos para as melhores práticas em AEH. Hereditary angioedema (HAE) is an autosomal dominant disorder, potentially fatal condition, characterized by recurrent episodes of edema involving subcutaneous tissue, gastrointestinal tract and upper airways, resulting from vasodilation and increased vascular permeability caused by increased production of bradykinin. In most patients, the disease is caused by mutations in the SERPING1 gene, which encodes the C1 inhibitor protein (C1-INH). C1-INH inhibits several metabolic pathways, including the contact pathway. Its deficiency causes activation of the kallikrein-kinin system, leading to increased production of bradykinin and angioedema. Prevention of attacks is a major goal in management of patients with hereditary angioedema. The present study aimed to investigate the effects of a systematic intervention for HAE patients, in the frequency of angioedema attacks and quality of life. Thirty-three patients with HAE with C1-INH deficiency (HAE-C1-INH), belonging to a single family, participated in a management program coordinated by an allergist/immunologist. Angioedema attacks before intervention were ascertained by interviews, medical records and emergency room charts. After enrollment in the study, attacks were prospectively recorded by patients or caregivers in a diary of attacks. Mean number of attacks/month was compared at 12 months pre-intervention, 8 and 14 months within intervention. Patient-reported outcome (PRO) instruments were used to assess quality of life, including HAE Quality of Life (HAE-QoL) questionnaire, psychological conditions and work impairment, at baseline, 8 and 14 months within intervention. Data were stored in the REDCap platform, and analyzed by adjusted Bayesian models of double Poisson regression. As a result of intervention, the mean number of attacks/month significantly decreased from 1.15 pre-intervention to 0.25 and 0.23, 8 and 14 months within intervention, with mean decreases of -0.89 (95% CrI -1.21;-0.58) and -0.92 (95% CrI -1.22; -0.60), respectively (95% credible interval [CrI] excluding 0) . HAE-QoL scores showed mean total increases of 15.2 (CrI 1.23;29.77) and 26 (95% CrI 14.56;39.02) at 8 and 14 months within the study, as compared to baseline, revealing a marked improvement in quality of life. Significant increase in role-emotional, and reduction of depression, stress and anxiety were observed at 14 months. In conclusion, a systematic approach integrating HAE-specific care with effective handling of psychological issues decreased number of attacks and improved quality of life, targets for best practice in HAE.

Introduction: Prevention of attacks is a major goal in management of patients with hereditary angioedema (HAE). We aimed to investigate the effects of a systematic intervention for HAE patients. Methods: Thirty-three patients with HAE with C1-inhibitor deficiency, belonging to a single family, participated in a management program coordinated by an allergist/immunologist. Angioedema attacks before intervention were ascertained by interviews and emergency room charts and recorded prospectively by patients or caregivers after enrollment. Mean number of attacks/month was compared at 12 months preintervention and 8 and 14 months within intervention. Patient-reported outcome instruments were used to assess quality of life, including HAE Quality of Life (HAE-QoL) questionnaire, psychological conditions, and work impairment, at baseline and 8 and 14 months within intervention. Data were stored in REDCap platform and analyzed by adjusted Bayesian models of double Poisson regression. Results: Mean number of attacks/month significantly decreased (95% credible interval [CrI] excluding 0) from 1.15 preintervention to 0.25 and 0.23, 8 and 14 months within intervention, with mean decreases of −0.89 (95% CrI: −1.21 to −0.58) and −0.92 (95% CrI: −1.22 to −0.60), respectively. HAE-QoL scores showed mean total increases of 15.2 (95% CrI: 1.23–29.77) and 26 (95% CrI: 14.56–39.02) at 8 and 14 months within the study, as compared to baseline, revealing marked improvement in quality of life. Significant increase in role-emotional and reduction of depression, stress, and anxiety were observed at 14 months. Conclusion: A systematic approach integrating HAE-specific care with effective handling of psychological issues decreased the number of attacks and improved quality of life, targets for best practice in HAE.