OBJECTIVES: Fabry disease is a multisystem rare disorder involving renal, cardiovascular, respiratory, gastrointestinal systems and skin. Patients are managed in specialist centres with diagnosis coded using the non-specific ‘Lysosomal Storage Disorders’ umbrella. However, Fabry diagnosis is often recorded in primary care. We aimed to utilise linked primary and secondary care datasets to investigate the disease burden, resource utilisation and real-world outcomes for Fabry patients in England.

METHODS: Retrospective analysis of primary and secondary electronic healthcare records (between 2000-2019) using Clinical Practice Research Datalink (CPRD) and Hospital Episode Statistics (HES) respectively. Costs were estimated using Personal Social Services Research Unit reference costs and NHS tariffs.

RESULTS: 535 patients with Fabry disease were identified in CPRD and linked data were available for 311. Prevalence was estimated at 0.152 (95% confidence interval: 0.139, 0.167) per 100,000 individuals. The majority of patients were first diagnosed in adulthood, at a median age of 37 years.

The symptoms associated with Fabry disease recorded prior to diagnosis included: pain (49.0%), respiratory (32.5%), mental health (23.0%), gastrointestinal (22.1%), dermatological (17.2%), cardiovascular (16.3%), neurological (14.6%), and renal (9.2%).

The mean annual healthcare resource use (mean annual cost) per Fabry patient was: 0.1 non-elective inpatient admissions (£187), 0.002 critical care spells (£2), 0.8 elective admissions (£246), 0.2 Accident & Emergency attendances (£34), 5.6 primary care appointments (£185) and 33.1 primary care prescriptions (£296). The most frequently prescribed drugs were in the Central Nervous System British National Formulary chapter, which includes pain and mental health medication.

Overall survival was 95.3% (95% confidence interval: 92.6, 98.1) at 5 years and 87.4% (95% confidence interval: 78.4, 97.5) at 10 years from first recorded diagnosis.

CONCLUSIONS: Combined primary and secondary datasets highlight the substantial burden of Fabry disease and its impact on patients’ quality of life, in particular regarding pain and mental health.