Development and performance of a hereditary hemorrhagic telangiectasia specific quality of life instrument

Abstract

SESSION 8: EMERGING ISSUES IN HHT

Objective: Hereditary Hemorrhagic Telangiectasia (HHT) negatively impacts health-related quality of life (HR-QoL), however, previous tools to measure HR-QoL are not HHT-specific. Our objective was to develop an HHT-specific HR-QoL (HHT-QoL) instrument and evaluate its performance in a cross-sectional survey of individuals with HHT.

Methods: Four HHT-specific questions were developed to evaluate the impact of HHT on productivity, social, and personal interactions. An anonymous email survey was conducted through the Cure HHT Foundation. Participants also indicated their perceived HHT severity and completed three Patient-Reported Outcomes Measurement Information System (PROMIS) short-form questionnaires (A: Discretionary social activities; B: Social roles; and C: Emotional distress).
Results: Complete data were available for 290 participants who selfidentified their HHT severity as mild (29%), moderate (46%), or severe (25%). The HHT-QoL scale was reliable (Cronbach’s-a, 0.83). Principal components analysis indicated the instrument was unidimensional. Participants had low levels of satisfaction with their ability to participate in discretionary social activities (PROMIS A mean [SD] = 36.4 [14.3]) and perform in social roles (PROMIS B 41.5 [17.2]), and a high level of emotional distress (PROMIS C 64.8 [24.2]). The HHT-QoL score was negatively correlated with PROMIS A (r = - 0.65) and B (r = - 0.68), and positively correlated with PROMIS C (r = 0.51).

Conclusion: We developed a 4-question, HHT-specific QoL instrument and demonstrated that it is reliable and correlates well with
PROMIS tools assessing productivity, social interactions, and emotional distress. The HHT-QoL provides valuable insight and may be a
useful addition to future clinical research in HHT.