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

Abstract

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. Interdisciplinary diagnostic and therapeutic recommendations of the Polish Dermatological Society (PTD) and Polish Society of Allergology (PTA)

“…If normal values of these parameters are obtained in a patient with a clinical suspicion of HAE-C1-INH, the test should be repeated during an oedema attack. In most patients, C4 component levels are reduced in the asymptomatic period as well, both in HAE-1 and in HAE-2 [ 2 , 6 , 10 , 38 ].…”

“…Apart from family history, age at first onset and comorbidities, differential diagnostic workup ofhereditary angioedema with C1-INH deficiency (HAE-C1-INH) and acquired angioedema (AAE-C1-INH) shouldinclude the levels of C1q component. This parameter is reduced in approximately 75% of AAE-C1-INH patients, whereas it is usually normal in HAE-C1-INH [ 2 , 6 , 38 , 39 ]. Genetic testing (for SERPING1 mutations) is usually required in diagnostically challenging cases, e.g.…”

Angioedema. Interdisciplinary diagnostic and therapeutic recommendations of the Polish Dermatological Society (PTD) and Polish Society of Allergology (PTA)

“…Uzyskanie prawidłowych wartości tych parametrów u chorego z klinicznym podejrzeniem HAE-C1-INH wymaga powtórzenia badań w czasie napadu obrzęku. Poziom składowej C4 u większości chorych jest obniżony również w okresie bezobjawowym, zarówno w HAE-1, jak i w HAE-2 [2,6,10,38].…”

“…W różnicowaniu postaci wrodzonej HAE-C1-INH z postacią nabytą AAE-C1-INH oprócz wywiadu rodzinnego i wieku wystąpienia pierwszych objawów oraz wykluczenia chorób współistniejących istotne znaczenie ma poziom składowej C1q. Parametr ten jest obniżony u ok. 75% chorych z AAE-C1-INH, natomiast w HAE-C1-INH jest najczęściej prawidłowy [2,6,38,39]. Wykonanie badań genetycznych (mutacje genu SERPING1) jest zwykle konieczne w przypadkach trudnych diagnostycznie, np.…”

Improving the Management of Hereditary Angioedema

“…In this scenario, a group of experts from the Brazilian Association of Allergy and Immunology (ASBAI) and the Brazilian Group for the Study of Hereditary Angioedema (GEBRAEH) updated the 2011 Guidelines. While 9 specialists from 7 services participated in the first guidelines, 27 participants representing 13 services elaborated the "Brazilian Guidelines for the Diagnosis and Treatment of Hereditary Angioedema - 2017" 3 , 4 . In the 2017 guidelines, the flowcharts and algorithms for the diagnosis and treatment of HAE were updated, with the inclusion of new drugs that became available in Brazil.…”