Economic Burden of Fabry Disease in Colombia

OBJECTIVES: Fabry disease (FD) is a severe multisystemic orphan disease, with a wide clinical spectrum ranging from a severe phenotype, the classical male, to a mild phenotype in females. This study aims to estimate the annual economic burden of FD in Colombia from a health system perspective.

METHODS: Diagnosed cases were identified from national registries. Unidentified cases were estimated using diagnosed cases and a 60% literature under-reporting rate. Diagnosed cases were distributed according to disease classification (classical and non-classical) and treatment status (newly diagnosed, first year and two or more years of treatment).

Cost of care per patient per year including treatment, routinary follow-up and disease-related events, was estimated from HMO’s administrative records (RWD) consisting of 3 consecutive years of care for 7 million members, representative for the disease and national population. The disease-related events occurrence was obtained from scientific literature and validated with clinical experts. Costs are expressed in 2023 USD$.

RESULTS: Based on the under-reporting rate, 603 patients with FD are estimated of whom 241 are diagnosed. For the cost estimation, 58 patients/year were identified in the administrative records database analyzed.

The annual economic burden for diagnosed patients is $23,874,758, representing 0.16% of the total national Basic Benefits Plan. The classical phenotype (12.5% of the population) accounts for 56.9% of costs. The average annual cost per patient is $99,065, including the cost of disease-specific medications.

Treatment reduces the cost of event care per patient from $2,056 for the untreated/newly diagnosed patient to $914 (55.5% reduction) in the first year of treatment and $649 (68.4% reduction) in the following years.

CONCLUSIONS: FD is a highly disabling disease with a major impact on quality of life and healthcare resources. Under-diagnosis may reach 70%, increasing healthcare resources for untreated patients. Early diagnosis can improve patients' quality of life and reduce the cost of complications.