Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

Abstract

Background Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients’ daily lives. To date, no scale has been validated to assess the specific symptoms of this disease on the quality of life (QOL) of HHT patients. This makes it difficult for clinicians to accurately measure the quality of life of patients with HHT. The present study aims to develop and validate a QOL measurement tool specific to HHT disease: the QOL questionnaire in HHT (QoL-HHT). Methods A quantitative, non-interventional, multi-center study involving HHT patients in twenty French HHT expert centers was conducted. A calibration sample of 415 HHT patients and a validation sample of 228 HHT patients voluntarily participated in the study. Data were analyzed using exploratory factor analysis (EFA), confirmatory factor analysis (CFA), Exploratory Structural Equation Modeling (ESEM) analyses, reliability analyses, and correlational analyses. Results The EFA, CFA and ESEM results allowed us to provide evidence of the factorial structure of a questionnaire composed of 24 items measuring 6 domains of QOL: Physical limitations, social relationships, concern about bleeding, relationship with the medical profession, experience of symptoms, and concern about the evolution of the disease. Cronbach’s alpha coefficients (> 0.70) demonstrated reliable internal consistency of all the QoL-HHT scores (dimensions). The results of the test–retest provided further evidence of the reliability of the QOL-HHT scores over time. Correlational analyses provided evidence for the convergent validity of the QoL-HHT scores. Conclusions We developed a simple and quick self-assessment tool to measure quality of life specific to HHT disease. This study demonstrated reliability and validity of our QoL-HHT scores. It is a very promising tool to evaluate the impact of HHT disease on all aspects of the quality of life of HHT patients in order to offer them individualized medico-psycho-social support. Trial registration: ClinicalTrials, NCT03695874. Registered 04 October 2018, https://www.clinicaltrials.gov/ct2/show/NCT03695874

Health-Related Quality of Life Outcome Measures in Individuals With Hereditary Hemorrhagic Telangiectasia: A Scoping Review

“…Physical health was assessed in 56 studies (88.9%). 12,14–17,19,22–32,34–44,46–51,53–55,57,59–75,100 Twenty pre-existing instruments were used, and 15 studies used custom instruments. 22,24,32,34,35,38,39,42,50,53,54,57,59,65,…”

“…Social health was assessed in 39 studies (61.9%). 12,16,17,19,22,23,25,27–29,31,34,38,41,44,45,47–50,52,53,55–57,60–63,66–68,70,74,75,100 Among them, 12 pre-existing instruments were used, and 7 studies used custom instruments. The SF-36 (22; 57.9%) was the most used tool, followed by the GBI (4; 6.4%), the NOSE-HHT (2; 5.1%), and the SNOT-22 (2; 5.1 %).…”

“…Two of the custom instruments—the QOL-HHT questionnaire and the HHT-QOL instrument—have been validated in individuals with HHT. 45,50…”

“…The investigation led to the creation of a 24-item questionnaire with high-quality content validity and psychometric analysis, including tests of construct validity and reliability. 50 This is the first holistic HHT-QOL measure that focuses on the illness experience beyond epistaxis and includes the following evidence-based domains: physical limitations, social relationships, concern about bleeding, relationship with the medical professional, experience of symptoms, evolution of the disease. To date, the questionnaire has only been tested in French, and neither a minimal clinically significant difference nor clinical relevance has been identified.…”

Assessing the Psychometric Validity of the Epistaxis Severity Score: Internal Consistency and Test–Retest Reliability

“…8 The ESS has also been used to assess the severity of disease before and after interventions to measure response to treatment. 3,4,8,11,12,17,18 The objective of this study was to assess the IC, intercorrelation, factor analysis, and test–retest reliability of the ESS in HHT patients. To our knowledge, this is the first report evaluating these psychometric properties of the ESS for epistaxis in patients with HHT.…”