What this study looked at
The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders that affect many parts of the body, and ear, nose and throat (ENT) problems are among their common early signs. Researchers reviewed the medical records of 61 patients with several different MPS subtypes to see how often ENT symptoms appeared, at what age, and how they related to the timing of the MPS diagnosis and any surgery.
Key takeaways
- Nine in ten patients had at least one ENT diagnosis, and in 75% of cases these appeared before MPS itself was recognised.
- The first ENT symptoms appeared at a median age of 2.8 years, ahead of the median age of MPS diagnosis at 4.1 years, with chronic or recurrent rhinosinusitis the earliest and most common problem.
- More than half of patients had at least one ENT operation, most of them before MPS had been diagnosed.
Why it matters
Because ENT symptoms so often come first, ENT specialists are well placed to spot MPS early — making their awareness an important part of prompt diagnosis and long-term care.
