What this covers
The mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders in which a missing enzyme leaves glycosaminoglycans (GAGs) to build up in cells and tissues, causing progressive, multi-organ damage and, in time, premature death. This article looks at why ear, nose and throat (ENT) problems are so important in MPS and at the part otolaryngologists can play in recognising the condition early.
Key takeaways
- ENT disorders affect more than 90% of people with MPS and tend to appear early, including recurrent and persistent otitis media, enlarged tonsils and adenoids, nasal obstruction, obstructive sleep apnoea, hearing loss and progressive respiratory problems.
- Because undiagnosed children are often referred to an otolaryngologist before MPS is confirmed, the ENT specialist is well placed to be among the first to suspect the underlying disease.
- Suspicion should be raised when non-specific ENT problems come with repeated surgery or unexplained worsening despite correct treatment, or alongside signs such as an enlarged liver, coarse facial features, joint stiffness, bone deformities, heart valve disease or carpal tunnel syndrome.
Why it matters
Recognising these patterns places otolaryngologists at the front line of early diagnosis, giving children with MPS a better chance of timely, multidisciplinary care.
