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


METHODS
Questionnaire 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.


RESULTS
Of 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.


CONCLUSIONS
We 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.
Division of Clinical Immunology, University Hospital Zurich, Zurich, Switzerland. Urs.Steiner@usz.ch.
Urs C
UC
Steiner
Allergy Unit, Department of Dermatology, University Hospital Zurich, Zurich, Switzerland.
Christina
C
Weber-Chrysochoou
Division of Allergology, University Clinic of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.
Arthur
A
Helbling
Allergy Unit, Department of Dermatology, University Hospital Basel, Basel, Switzerland.
Kathrin
K
Scherer
Allergy Unit, Department of Dermatology, University Hospital Zurich, Zurich, Switzerland.
Peter Schmid
PS
Grendelmeier
Division of Heamatology and Central Heamatology Laboratory, Department of Internal Medicine, Kantonsspital Lucerne and University of Berne, Berne, Switzerland.
Walter A
WA
Wuillemin
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D054179:Angioedemas, Hereditary / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D013557:Switzerland; D055815:Young Adult
D050718:Complement C1 Inhibitor Protein
Danazol; Gender related clinical characteristics; Hereditary Angioedema (HAE); Individualized therapy