52,000 Rare Disease Patients Annually in Korea... Ages 60-64 Most Common

[Asia Economy Reporter Jo In-kyung] It has been revealed that approximately 52,000 patients are diagnosed with rare diseases annually in South Korea, with about 1,600 deaths each year resulting from these conditions.

According to the "Rare Disease Patient Statistical Yearbook" published by the Korea Disease Control and Prevention Agency on the 29th, among the 52,310 patients newly diagnosed with rare diseases in 2020, 1,767 (3.4%) had ultra-rare diseases, 88 (0.2%) had other chromosomal abnormalities, and the remaining 50,455 (96.4%) had other rare diseases.

Ultra-rare diseases are those with a prevalence of fewer than 200 patients or diseases without a separate disease classification code. Other chromosomal abnormalities refer to rare diseases defined by chromosomal deletions, duplications, etc., which lack a specific disease classification code or disease name.

The Disease Control and Prevention Agency designates and announces diseases with a patient population of fewer than 20,000 or diseases with unknown prevalence due to diagnostic difficulties after review by the Rare Disease Expert Committee and Management Committee. To monitor patient status, the agency has been conducting a rare disease registration and statistical project since 2020.

The age group with the highest number of rare disease cases was 60?64 years old (4,078 patients), accounting for 10.16% of the total. By gender, females numbered 26,957 (51.5%), slightly more than males at 25,353 (48.5%). Regionally, the Seoul-Incheon area had the highest number of patients at 10,427, followed by Gyeonggi (10,365) and Yeongnam (9,978).

Among the 1,014 rare diseases announced in 2020, 50 diseases had more than 200 patients, accounting for 40,149 patients (76.8%).

Additionally, among rare disease patients, 48,155 registered for special medical expense support and actually received treatment. Their average hospital visits per person were 7 days, with an average total medical cost of 3.1 million KRW, and patients themselves bore an average cost of 340,000 KRW.

In 2020, there were a total of 1,662 deaths among rare disease patients, of which 1,219 (73.3%) were aged 65 or older.