OBJECTIVES: Previous systematic literature reviews (SLRs) on the humanistic burden of Fabry disease (FD), a rare, devastating, and progressive X-linked lysosomal disorder, were published almost 10 years ago. Our SLR aims to update knowledge on the burden associated with FD in light of a changing therapeutic landscape.

METHODS: We conducted an SLR in May 2022 (updated April 2023) to identify studies reporting humanistic burden and utility data in patients with FD who are either untreated or treated with enzyme replacement therapy (ERT) (pegunigalsidase alfa, agalsidase alfa, agalsidase beta), migalastat, venglustat, and lucerastat. Utility and disutility data were extracted along with other indicators of burden, such as the Mainz Severity Score Index (MSSI) and patient-reported outcomes (PROs) for pain (Brief Pain Inventory [BPI]), fatigue-, and gastrointestinal (GI) related symptom scores.

RESULTS: There were 120 studies reporting PROs and 31 studies reporting utility or disutility associated with FD, most of which were real-world evidence (RWE) studies. The EQ-5D was the most used utility elicitation method. Untreated EQ-5D utility ranged from 0.56 to 0.66, increasing to 0.69 to 0.90 following ERT over 1 to 3 years, suggesting that ERT is associated with higher utility values compared with no treatment. The MSSI is a disease-specific measure and was reported more frequently than fatigue-, GI-related symptoms or the more general BPI. Findings for the MSSI, BPI, fatigue-, and GI-related symptoms suggest that scores on these disease-specific and patient-reported outcome measures have remained stable over time with treatment.

CONCLUSIONS: The studies identified in this SLR add to our understanding of the humanistic burden of FD since almost 10 years ago. The results suggest utility values increase with ERT treatment, but patient burden has remained stable over time. Long-term data with existing therapies may provide additional insights on outcomes including pain, disease severity, and quality of life.