Economic Burden of Gaucher Disease in Colombia

OBJECTIVES: Gaucher disease (GD) is an orphan disease with heavy burden for patients, causing cytopenia, splenomegaly, hepatomegaly, bone lesions and neuronopathic involvement. This study aims to estimate the annual economic burden of GD in Colombia from the healthcare system perspective.

METHODS: Expected cases were calculated based on literature prevalence and compared with the number of diagnosed cases recorded in national registries. Diagnosed cases were distributed according to disease classification (I, II and III) 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 prevalence, 516 patients with GD are estimated of whom 225 are diagnosed. For the cost estimation, 81 patients/year were identified in the administrative records database analyzed.

The annual economic burden for diagnosed patients is $27,140,349, representing 0.18% of the total national Basic Benefits Plan. Adults classified as type I account for 84.5% of these costs. The average annual cost per patient is $125,649, including the cost of disease-specific medications.

Treatment reduces the cost of event care per patient from $3,632 for the untreated/newly diagnosed patient to $1,622 (55.3% reduction) in the first year of treatment and $1,020 (71.9% reduction) in the following years.

CONCLUSIONS: Timely diagnosis and treatment may represent a reduction in the use of resources and costs associated with health care. However, a possible under-diagnosis of 56.4% is observed, which implies the economic burden might be higher due to an increased use of health care resources from individuals without treatment.