Clinical and economic impact of screening for Fabry disease in children from high risk groups

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To evaluate a potential impact of screening for Fabry disease (FD) and subsequent enzyme replacement therapy (ERT) among children and adolescents with diseases masking FD on the burden of FD in Russia.

Material and methods

The costs of laboratory screening for FD were estimated in children and adolescents with various rheumatological diagnoses masking FD (e.g. rheumatoid 44 arthritis, rheumatic fever, vasculitis, etc). To assess the economic losses associated with an incorrect differential diagnosis of FD, we calculated the direct costs of treatment of diseases masking FD and costs of management of FD patients, excluding the costs of ERT. We calculated also the government's expenditures on the payment for disability pensions and the reduction in GDP associated with the premature death of patients with FD in the economically active age.


The estimated annual costs of selective screening for FD in all children and adolescents with masking rheumatolodical diagnoses (22937 per year) were 24 mln rubles. The screening may identify the majority of Russian patients with FD (835 out of 1205 potential patients annually) who will timely start ERT. This approach will reduce the estimated costs of management of patients with FD and treatment of masking diseases by 190 million rubles per year. ERT in patients with FD results in a decrease in the disability rate and prolongs the duration of the economically active life by 5.7 years. Annually, these effects may reduce the social government spendings by 29 million rubles and the GDP loss associated with the premature mortality of patients with FD by 74 million rubles. The total cost savings (excluding the costs of ERT) resulting from screening of children under 18 years of age with subsequent ERT in identified patients with FD may reach 292 million rubles.


Out findings justify screening for FD among children and adolescents with diseases masking FD.

Key words

Fabry disease, agalsidase beta, agalsidase alfa, masking diseases, screening, Lyso-Gb3.