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

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is characterized by arteriovenous malformations and telangiectasia, with primary clinical manifestations of epistaxis and gastrointestinal bleeding and resultant anemia. HHT negatively affects health-related quality of life (HR-QoL); however, existing 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. Four HHT-specific questions were developed to evaluate the impact of HHT on productivity and social and personal interactions. An anonymous e-mail survey was conducted through Cure HHT. Participants also indicated their perceived HHT severity and completed 3 Patient-Reported Outcomes Measurement Information System (PROMIS) questionnaires: Discretionary Social Activities, Social Roles, and Emotional Distress. Complete data were available for 290 participants who self-identified their HHT severity as mild (29%), moderate (46%), or severe (25%). The HHT-QoL scale was reliable (Cronbach's-α, 0.83). Principal components analysis indicated the instrument was unidimensional. Participants had low levels of QoL with their ability to participate in discretionary social activities (PROMIS mean 36.4 [standard deviation 14.3]) and perform in social roles (41.5 [17.2]), and the presence of a high level of emotional distress (64.8 [24.2]). The HHT-QoL score correlated negatively with PROMIS Discretionary Social Activities (r = -0.65) and Social Roles (r = -0.68) and positively correlated with PROMIS Emotional Distress (r = 0.51). In conclusion, the 4-item HHT-QoL instrument provides valuable insight and may be a useful addition to future clinical research in HHT.

Graphical abstract

Figure 1.

Distribution of responses for HHT QoL pilot items. Responses to the 4 items in the HHT QoL pilot instrument. N = 290.

Figure 2.

Principal components analysis of HHT-QoL pilot items. (A) Scree plot for principal components analysis of HHT-QoL pilot items showing a single principal component with eigen value >1 that explains most of the variance in the items. (B) Scatterplot of the first 2 principal components (PC1 × PC2) shows no pattern. N = 290.

Figure 3.

Correlation of PC1 with PROMIS scales. Scatterplot and Pearson correlation for HHT QoL first principal component (PC1) by PROMIS QoL with participation in discretionary social activities (A), QoL with participation in social roles (B), and emotional distress-depression (C). N = 290.

Figure 4.

Distribution of potential HHT QoL scoring methods. Distribution plots of the HHT QoL first principal component (A), sum of the 4 items (B), and mean of the 4 items (C), by HHT self-reported severity indicate similarity among the 3 potential scoring methods. N = 290.

Figure 5.

HHT: QoL final instrument. The total score is calculated by summing the items (each scored from 0 to 4). The total score ranges from 0 (no limitations) to 16 (severe limitations). If any items are missing, the total score is not calculated.