Hereditary angioedema (HAE) in Brazil: Registry of 120 cases

Grumach, Anete Sevciovic; Correia, Alexandre Pires; Valle, Solange Oliveira Rodrigues; França, Alfeu Tavares; Pinto, Jorge; Constantino-Silva, Rosemeire Navickas; Mansour, Eli; Zollner, Ricardo de Lima; Vilela, M. M. S.; Moyses, Therezinha Ribeiro; Andrade, Maria Elisa Bertocco; Fernandes, Fátima Rodrigues; Tebyriçá, João Negreiros; Tebyriçá, C.; Jacob, Cristina Miuki Abe; Gesu, R. Di; Gesu, G. Di; Benedicto, C.; Geller, Mário; Wolff, P.G.; Porto, C.; Moraes-Vasconcelos, Dewton; Duarte, Adoración

doi:10.1016/j.molimm.2007.06.128

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Only a few studies have evaluated HAE Latin American patients’ profiles and, as far as we know, this is the first one performed by a single Brazilian center in a prospective way . HAE is a rare and still underdiagnosed disease .…”

Section: Discussionmentioning

confidence: 99%

Hereditary angioedema: a prospective study of a Brazilian single‐center cohort

et al. 2019

View full text Add to dashboard Cite

Background Hereditary angioedema (HAE) is rare and still underdiagnosed in some countries. We aimed to describe HAE diagnosis and sociodemographic and clinical features in patients with HAE due to C1 inhibitor deficiency (HAE-C1-INH) followed up at a tertiary-level center in Rio de Janeiro, Brazil.Methods A descriptive, cross-sectional study with prospective data collection of 138Brazilian patients with HAE was performed. From the total, 107 patients with HAE-C1-INH were selected. Data were assessed based on a specific questionnaire. ResultsOne hundred and five patients had HAE type I (76.1%), and two had HAE type II (1.4%). Seventy-two were female (67.3%), and 35 were male (32.7%). Mean age was 38.0 AE 15.0 years (range: 12-73 years). A long delay (17.7 AE 12.6 years) until diagnosis was observed. About 86.9% had a familial history. Cutaneous edema (95.8%), abdominal pain (88.5%), and laryngeal edema (65.6%) were the most frequent symptoms. Triggering factors (95.8%) and prodromal symptoms (47.9%) were referred. Attacks were severe in 55.1% and moderate in 24.3%. Eleven (10.3%) were asymptomatic. HAE attacks were more frequent and severe (P = 0.021) in females. ConclusionsWe observed a considerable delay in diagnosis, even with familial history.The severity of HAE attacks, especially in females, highlights the need for an awareness of disease by gynecologists and obstetricians. Screening of familial members, including asymptomatic individuals, is critical for earlier diagnosis. Regional evaluation of patient profiles can be helpful to draw more attention about HAE and to improve quality of life.

show abstract

Section: Discussionmentioning

confidence: 99%