Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study

Abstract

BackgroundRegistration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor deficiency (C1-INH-HAE) in Switzerland.MethodsQuestionnaire survey within a cohort study: Consenting eligible patients with diagnosed HAE according to clinical history, physical examination and laboratory results, including plasma values for C1-INH and C4 were selected. To each participant we sent a questionnaire assessing patients’ birthday, sex, date of first symptoms and diagnosis, trigger factors, prodromal symptoms, frequency and localization of angioedema, medication use and co-morbidities. Clinical information was collected in each center and then transmitted to the cohort database. Frequencies and distributions were summarized. Associations between gender and trigger factors or prodromal symptoms or localization of angioedema were assessed in multivariate analyses correcting for patients’ age.ResultsOf 135 patients, data from 104 patients (77 %) were available for analysis. Fifty- four percent were female, mean age at diagnosis was 19.5 years (SD 14.1), Mean age when completing the questionnaire was 44.0 (SD 19.8). More women than men were symptomatic (44/57 vs. 36/47; p = 0.005). This association remained when correcting for age at diagnosis (16.10. 95%CI (5.17 to 26.70); p = 0.004). Swelling episodes ranged between 1 and 136 episodes/year. Swelling was more common among female than among male (-13.15 (95 % CI; -23.10 to -3.22), p = 0.010). Age at diagnosis was inversely associated with the total number of attacks 0.50 (-0.88 to -.011); p = 0.012). One third of patients were on danazol prophylaxis.ConclusionWe found large differences of HAE in male and female both in terms of symptom number and swelling episodes. Women are more affected by intensity and frequency of angioedema episodes than men. Danazol treatment remains widely used as effective prophylaxis despite its side effects. New therapies which selectively influence the hormonal estrogen balance could open new therapeutic options mainly for women and maybe also for men.

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

“…We found a preponderance of HAE‐C1‐INH type I that is in accordance with the literature, but only two cases of HAE‐C1‐INH type II (1.4%), lower than the 15% to 20% estimated . Probably, the limited availability of C1‐INH function assays may explain the low incidence of HAE type II .…”

“…Probably, the limited availability of C1‐INH function assays may explain the low incidence of HAE type II . Steiner et al also described two cases of HAE type II (1.98%) in a study of 104 Swiss patients, as well as, Xu et al (two cases; 1.27% of 158 Chinese patients). On the other hand, Kargarsharif et al diagnosed HAE type I in 63.3% of 51 Iranian patients and HAE type II in 36.7%.…”

Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema

“…All patients fulfilled the diagnostic criteria for HAE according the guidelines . Data of patient's birthday, sex, date of first symptoms, frequency of angioedema and if they took prophylactic treatment were assessed from the questionnaire concerning clinical patient characteristics described previously . Family affiliations have been determined with the collaboration of the Swiss HAE patient organization (http://www.hae-vereinigung.ch).…”

“…The genetic background of several HAE cohorts from different countries has already been documented [9][10][11][12][13][14]. A clinical description of the Swiss HAE cohort was published recently, describing 135 patients living in the German part of Switzerland [15]. However, the genetic background of Swiss HAE patients has not yet been elucidated.…”

Hereditary Angio-Oedema for Dermatologists

“…Disease severity might vary significantly between affected family members, despite them carrying the same mutation. In general, women are more severely affected than men [37, 46, 47]. …”