OBJECTIVES

: The aim of this study is to identify the prevalence and of sphingolipidosis using Korean National Health Insurance claim database from 2010 to 2016 in Korea.

METHODS

: We analysed nationwide data collected between 2010 and 2016 from the Korean Health Insurance Review and Assessment (HIRA) database. Patients with sphingolipidosis were defined by the E75.2 Other sphingolipidosis code of the Korean Classification of Disease (KCD). E75.2 includes fabry’s disease, gaucher’s disease, krabbe’s disease, niemann-Pick’s disease, farber’s syndrome, and metachromatic leukodystrophy. The prevalence and economic burden of sphingolipidosis was assessed on the basis of age, sex, admission, and geographical distribution.

RESULTS

: The overall prevalence of sphingolipidosis was dramatically increased from 3.5 to 6.3 per 1,000,000 populations over the study period. The male to female ratio of sphingolipidosis was 1.16:1 in 2016, revealing a male predominance. The economic burden from sphingolipidosis was significantly increased from 6,473,208 KRW to 31,793,867 KRW (approx. 5,500 USD to 27,100 USD) from 2010 to 2016. The patients are being mainly treated in institution above hospital. Among five districts in Korea, the prevalence in the Seoul Metropolitan district was the highest as 64.5% of total patients, accounting for about 56.7% of total economic burden in 2016.

CONCLUSIONS

: This study found that the overall prevalence of sphingolipidosis is dramatically 1.8 fold increased from 2010 to 2016, with male predominance, and also dramatically 4.9 fold increased economic burden of sphingolipidosis in Korea. Among above sphingolipidosis, only Fabry’s disease and Gaucher’s disease has approved and available treatments in Korea. Further analysis for finding association with treatment availability is needed.