What this covers
Lysosomal storage disorders (LSDs) are a varied group of inherited metabolic conditions that are far more common than many doctors assume. This article explains why their bone and joint symptoms often bring patients to rheumatologists, and why raising awareness among those doctors matters.
Key takeaways
- Severe forms of LSD are often diagnosed readily, but the more attenuated forms are frequently missed or diagnosed only after significant delay.
- Because the presenting problems often involve the bones and joints, these patients are frequently under the care of rheumatologists and may receive inadequate treatment.
- Effective, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation are now available for certain LSDs, and starting them in good time is necessary to prevent severe, disabling and irreversible damage.
Why it matters
Because timely treatment can prevent permanent harm, better recognition of the presenting signs and symptoms, including by rheumatologists, has become essential.
