OBJECTIVES: To assess the differences in healthcare resource utilization and associated costs between patients with early versus late clinical diagnosis of Fabry disease (FD).

METHODS: Due to scarcity of relevant local clinical data, the expert panel methodology was employed. A structured questionnaire was developed, concerning patient characteristics and resource use (medication, physician visits, tests, hospitalization, dialysis). Cost data derived from local official sources and the international literature.

RESULTS: The expert panel - consisting of 8 hospital physicians - indicated nephrology as the most utilized medical specialty (followed by cardiology and neurology). On average, classical FD patients made 2.64 visits annually in early and 7.56 visits in late diagnosis to nephrologists. The respective visits of non-classical FD were 1.69 and 2.63. Agalsidase alfa is the medication with the highest proportion of utilization in all patient groups. In a 5-year time frame, 26.88% of classical FD patients with early and 43.13% with late diagnosis are expected to be hospitalized, while 2.13% and 10.63%, respectively, are expected to require admission to Intensive Care Unit (ICU). For non-classical FD, these proportions are 17.75% in early and 30.63% in late, respectively, for hospitalization in general ward and 1.25% in early and 5.75% in late for ICU. Lastly, 17.00% of early and 29.00% of late diagnosed classical FD patients and 7.50% of early and 14.00% of late diagnosed non-classical FD patients are estimated to be on dialysis.

The mean weighted annual cost of late diagnosis patients is higher by 7,404.78€ in classical (156,572.64€ in early vs 163,997.42€ in late) and 3,538.74€ in non-classical FD (152,980.07€ in early vs 156,518.81€ in late). The main cost contributor in all patient groups is medication (>88%), followed by dialysis.

CONCLUSIONS: This study highlights the importance of early diagnosis in FD, since late diagnoses resulted in higher healthcare resource use and costs.