Abstract
BackgroundThere is a need for a disease-specific instrument for assessing health-related quality of life in adults with hereditary angioedema due to C1 inhibitor deficiency, a rare, disabling and life-threatening disease. In this paper we report the protocol for the development and validation of a specific questionnaire, with details on the results of the process of item generation, domain selection, and the expert and patient rating phase.Methods/DesignSemi-structured interviews were completed by 45 patients with hereditary angioedema and 8 experts from 8 regions in Spain. A qualitative content analysis of the responses was carried out. Issues raised by respondents were grouped into categories. Content analysis identified 240 different responses, which were grouped into 10 conceptual domains. Sixty- four items were generated. A total of 8 experts and 16 patients assessed the items for clarity, relevance to the disease, and correct dimension assignment. The preliminary version of the specific health-related quality of life questionnaire for hereditary angioedema (HAE-QoL v 1.1) contained 44 items grouped into 9 domains.DiscussionTo the best of our knowledge, this is the first multi-centre research project that aims to develop a specific health-related quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency. A preliminary version of the specific HAE-QoL questionnaire was obtained. The qualitative analysis of interviews together with the expert and patient rating phase helped to ensure content validity. A pilot study will be performed to assess the psychometric properties of the questionnaire and to decide on the final version.
Highlights
There is a need for a disease-specific instrument for assessing health-related quality of life in adults with hereditary angioedema due to C1 inhibitor deficiency, a rare, disabling and life-threatening disease
A pilot study will be performed to assess the psychometric properties of the questionnaire and to decide on the final version
Mortality is mainly due to upper airway obstruction caused by laryngeal edema and has been reported to be as high as 3050% in patients with undiagnosed HAE-C1 inhibitor (C1-INH) [4] and 30% in patients diagnosed with HAE-C1-INH whose cases were improperly treated [5]
Summary
There is a need for a disease-specific instrument for assessing health-related quality of life in adults with hereditary angioedema due to C1 inhibitor deficiency, a rare, disabling and life-threatening disease. Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is a genetic disease that reduces the synthesis or function of C1 inhibitor (C1-INH) [1]. Bradykinin acts as the primary mediator [2] It is considered a rare disease, and in Spain has a minimal prevalence rate of 1.09 cases/100,000 inhabitants [3]. Mortality is mainly due to upper airway obstruction caused by laryngeal edema and has been reported to be as high as 3050% in patients with undiagnosed HAE-C1-INH [4] and 30% in patients diagnosed with HAE-C1-INH whose cases were improperly treated [5]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
