What this covers
The mucopolysaccharidoses (MPS) are a group of rare inherited disorders that, taken together, are not as uncommon as each one alone — with an incidence of roughly one in 25,000. This article explains why rheumatologists in particular need to recognise them: from an early stage, MPS disorders affect the bones and joints, causing joint stiffness, reduced joint mobility, carpal tunnel syndrome and other bone abnormalities that bring patients to a rheumatologist, often before the underlying illness has been identified.
Key takeaways
- Because their musculoskeletal symptoms are not specific, people with MPS are frequently diagnosed late or misdiagnosed, which delays or misdirects treatment.
- As the disease progresses, patients develop a wide range of complications that cause significant illness and shorten life expectancy.
- A diagnostic algorithm for MPS based on joint contractures has been published to help clinicians know what to look for and which tests are available.
Why it matters
Rheumatologists are often among the first specialists these patients see, so their awareness can be the difference between a timely diagnosis and years of avoidable delay.
