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.

Angioedema hereditario, ponderación de evidencias. parte 2 - tratamiento / Hereditary angioedema, weighting of evidence. Part 2 - Treatment

Desde las observaciones de Quincke y Osler, que refirieron pacientes con una "tumefacción" diferente de las que provocaban habitualmente los mecanismos alérgicos hasta el descubrimiento de un nuevo mediador responsable de esos edemas dolorosos y deformantes, se han sucedido los aportes de los investigadores en el esclarecimiento de la patogenia y el tratamiento del AEH hasta la actualidad, en que el arsenal terapéutico se ve notablemente enriquecido por medicamentos altamente eficaces y específicos. Intentaremos describirlos. (AU)

From the observations of Quincke and Osler, who referred patients with a "swelling" different from those that usually provoked the allergic mechanisms until the discovery of a new mediator responsible for these painful and deforming edemas, have been the contributions of researchers in the Clarification of the pathogenesis and treatment of HAE to date, where the therapeutic arsenal is remarkably enriched by highly effective and specific drugs. We will try to describe them.(AU)

ANGIOEDEMA HEREDITARIO, PONDERACIÓN DE EVIDENCIAS. PARTE 1 / Hereditary angioedema, weighting of evidence. Part 1

A pesar de que el angioedema hereditario es un padecimiento raro, tiene una amplia bibliografía que ratifica que la fisiopatología de esta enfermedad es compleja. La constante investigación de la industria farmacéutica no solo ha aportado nuevos recursos terapéuticos sino que ha logrado despertar un inusitado interés en la comunidad médica, permitiendo que tengamos una mayor comprensión sobre los mecanismos que presiden la aparición de las crisis. El Comité de Angioedema Hereditario de la AAAeIC ha desarrollado una puesta al día sobre esta entidad, que, por las características de sus síntomas, es abordada principalmente por los especialistas en alergia e inmunología clínica(AU)

Although hereditary angioedema is a rare condition, it has a large number of references that confirm that the pathophysiology of this disease is complex. The constant research of the pharmaceutical industry has not only brought new therapeutic resources, but also aroused an unusual interest in the medical community, allowing us to have a better understanding of the mechanisms that perform the onset of crises. The AAA e IC Hereditary Angioedema Committee has developed an update on this entity, which, due to the characteristics of its symptoms, is mainly addressed by specialists in allergy and clinical immunology.(AU)

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 Cronbach's 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.