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

Abstract

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.

Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study

“…In the present analysis, the location of attacks in patients with HAE-1/2 (most commonly affecting the abdomen or skin) were comparable with those previously reported in other Brazilian HAE-1/2 patient cohorts. 18 , 22 Patients with HAE nC1-INH were more likely to experience laryngeal attacks and less likely to experience abdominal attacks than patients with HAE-1/2, consistent with previous reports. 31 , 32 It should be noted, however, that several recently reported findings demonstrate the occurrence of abdominal attacks in > 50% of patients with HAE nC1-INH, especially in the presence of FXII mutations.…”

“…Baseline characteristics and clinical features of patients with HAE nC1-INH were generally consistent with previously published findings of French and Brazilian patient cohorts with HAE nC1-INH, 16 , 23 , 29 , 30 and findings in patients with HAE-1/2 were consistent with previously published characteristics in Brazilian patient cohorts with HAE-1/2. 18 , 21 , 22 Compared with patients with HAE-1/2, patients with HAE nC1-INH had an older median age at symptom onset, older age at diagnosis, and a prolonged time between the onset of symptoms and diagnosis. Over the course of a similar follow-up period for the two patient groups, patients with HAE nC1-INH experienced fewer HAE attacks than those with HAE-1/2.…”

“… 18 The estimated prevalence of HAE in Brazil is 4220 patients (based on an estimated 211 million people in Brazil in 2020 and an assumed HAE worldwide prevalence of ∼1:50,000). 7 , 19 Clinical features and genetic mutations in Brazilian patients with HAE are increasingly being reported, including findings in patients with HAE-1/2 20 , 21 , 22 and in those with HAE nC1-INH. 16 , 23 , 24 , 25 Studies evaluating the quality of life in Brazilian patients with HAE demonstrate a heavy burden of disease in this population.…”

Consider Hereditary Angioedema in the Differential Diagnosis for Unexplained Recurring Abdominal Pain

“…Of 19 prospective and retrospective studies identified in this review, 9 reported delays in diagnosis experienced by patients with HAE with GI symptoms. The majority of studies were from Asia (4 studies) and Brazil (3 studies), with 1 study from the Czech Republic and 1 study from the United States 17–20,30–34. Because of geographic variation of disease and medical practices, it is unclear whether these data can be considered representative of HAE globally.…”

“…The median age at onset of symptoms ranged from 5.7 years in the United States17 and 6.5 years in Brazil18 to 28 years in Korea 31. The proportion of patients reporting GI symptoms before diagnosis ranged from 18% in Taiwan34 to 86% in Brazil 30. Most studies reported a high proportion of patients with a family history of HAE or other angioedema (ranging from 59% to 100% of patients); despite this, delays in diagnosis were high, with average delays of 6 to 23 years (Table, Supplemental Digital Content 1, http://links.lww.com/JCG/A881).…”