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.
Highlights
Registration 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-Hereditary Angioedema (HAE)) in Switzerland
In 2013 a detailed questionnaire was sent to the participants, assessing the patients’ birthday, sex, date of first symptoms and diagnosis, trigger factors, prodromal symptoms, frequency and localization of angioedema, medication use and comorbidities
Women were more affected by intensity and frequency of angioedema episodes than men, which is in line with a previous report [13]
Summary
Registration 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. Hereditary angioedema with C1 inhibitor deficiency (C1INH-HAE) is a rare, inherited disease, clinically characterized by recurrent acute swelling episodes on the extremities, abdomen, face, trunk, or airways, resulting from increased vascular permeability. These episodes occur spontaneously or are triggered by stimuli such as trauma, psychological stress, or infections. Both result from an aberration in the gene coding for the plasma protein C1-inhibitor (C1-INH) Another type of HAE with normal C1-INH protein was first described in 1985. Based on the estimated prevalence, the number of patients in our Swiss cohort corresponds to approximately 85 % of all HAE-affected patients living in Switzerland and represents the most complete set
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