Health‐related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress

Abstract

Health‐related quality of life (HRQOL) is reduced in Fabry disease (FD) and associated with clinical disease manifestations, but few have used Fabry‐specific severity scores to study how disease burden interferes with quality of life. We investigated how the Fabry DS3, consisting of four somatic domains and one patient‐reported item, associates with HRQOL, while also evaluating fatigue, pain and psychological distress as possible predictors. Thirty‐six adults with FD completed the Short‐form Health Survey (SF‐36), the hospital anxiety and depression scale (HADS), the brief pain inventory (BPI) and reported fatigue on a visual analog scale. Clinical data were collected from the last multidisciplinary hospital visit. Using correlation and hierarchical linear regression analyses, we examined associations between demographic, clinical and self‐reported predictors and the SF‐36 physical (PCS) and mental (MCS) component summary scores. Males scored lower than the general population in all SF‐36 domains (P < .05). General health and social functioning were reduced in females. Before including self‐reported symptom scores, DS3 showed associations with PCS (P = .009). Our fully adjusted model explained 66% of the variation in PCS, where education (P = .040) and fatigue (P = .002) retained significance. With HADS depression score (P = .001) as the sole significant factor, our regression model explained 56% of the variation in MCS. The DS3 score has implications for HRQOL in FD. Low education and fatigue represent major barriers to physical well‐being, while depression strongly influences mental quality of life. Fatigue should be recognized as an important endpoint in future FD trials. Increased efforts to diagnose and treat affective disorders are warranted.

Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease

“… 2 , 3 , 4 , 5 , 6 FD is a systemic disease with a wide spectrum of heterogeneously progressive clinical phenotypes; this spectrum ranges from the “classic” severe phenotype in males to a seemingly asymptomatic disease observed in females, with a variety of clinical presentations in between. 7 , 8 , 9 , 10 , 11 , 12 Pain is one of the earliest clinical symptoms of FD, also reported by children and young adults, 13 , 14 and life-impacting pain may still be present despite long-term enzyme replacement therapy (ERT), thereby requiring the use of adjunctive medications. Exercise intolerance even to mild physical activity has been reported in FD patients, 7 , 15 , 16 occurring also in the absence of a marked left ventricle hypertrophy, making this sign independent of cardiac impairment, such as diastolic dysfunction.…”

“… 7 , 8 , 9 , 10 , 11 , 12 Pain is one of the earliest clinical symptoms of FD, also reported by children and young adults, 13 , 14 and life-impacting pain may still be present despite long-term enzyme replacement therapy (ERT), thereby requiring the use of adjunctive medications. Exercise intolerance even to mild physical activity has been reported in FD patients, 7 , 15 , 16 occurring also in the absence of a marked left ventricle hypertrophy, making this sign independent of cardiac impairment, such as diastolic dysfunction. 9 Rather, exercise intolerance might indicate the direct involvement of skeletal muscle.…”

A systematic literature review on the health-related quality of life and economic burden of Fabry disease

“…The SF-12 is a shortened version of the SF-36 questionnaire, covering the same domains. SF-36 was used in 16 studies [ 19 , 26 , 30 – 44 ].…”

Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

“…Second, since several recruitment strategies were applied, the response rate among patients was currently not detectable. Some selection bias in respondents willing to participate appears unavoidable, such that more serious disease manifestations, psychological issues or fatigue might be more (or less) frequent among non-responders (42). Also due to the study design and the different survey modalities, it was not possible to determine a response rate.…”