At the end of diagnostic wandering, LSD patients found a chance at life

Lysosomal Storage Disease (LSD) is a rare disorder characterized by a deficiency or malfunction of lysosomal enzymes, which act as “intracellular scavengers,” leading to the accumulation of harmful substances and eventually to organ damage.

Mucopolysaccharidosis, Pompe disease, Gaucher disease, Fabry disease, Niemann-Pick disease, and Krabbe disease are representative, and the importance of early diagnosis is emphasized as irreversible damage cannot be avoided if treatment is missed.

In Korea, newborn screening tests for six LSDs have been covered by health insurance since January 2024, making early detection of the disease possible.

Q: What are lysosomal storage diseases?

A: Lysosomes act as “intracellular scavengers,” breaking down and removing unwanted materials from the cell. Enzymes are needed to perform this function, and most lysosomal storage diseases start when these enzymes are not produced or function properly due to genetic abnormalities. When enzymes are deficient, harmful substances that should be broken down and released gradually accumulate in the cell, impairing the cell’s function.

There are about 70 different LSDs reported to date, but only six or seven of them are treatable. Each disease has a very different clinical presentation depending on the deficient enzyme type and the organ in which the malfunctioning substance accumulates without breaking down. Therefore, irreversible damage can occur if not diagnosed and treated early, requiring specialized care.

Q: What is the number of LSD patients in Korea, and how many are diagnosed early?

A: Currently, there are no accurate statistics on the number of patients with rare diseases, including lysosomal storage disease (LSD), in Korea, but the number of LSD patients in clinical practice is estimated to be around 400 to 500. Based on the Rare Disease Management Act, the government is working to build data and register patients.

In the past, getting a diagnosis by visiting various hospitals was called “Diagnostic Odyssey,” but recently, the term “Diagnostic Journey” has been used to shed more positive light on the process, and a campaign is underway.

The diagnosis period has been significantly shortened compared to the past. While overseas, the average is about seven years, in Korea, it has been reduced to two to three years. In recent years, diagnosis has been made within a year and a half or as early as a few weeks if connected to the right specialist.

Advances in genomic diagnostic technology have played a decisive role in this change. At an institution like Seoul National University Hospital, where experience and technology have been accumulated, multidisciplinary care and precision medical technology are combined to provide fast and accurate diagnosis. Korea’s diagnostic capabilities are recognized as one of the best in the world.

…

KBR (https://www.koreabiomed.com))

More Details