Why should rheumatologists be aware of the mucopolysaccharidoses?

Rheumatology, Volume 50, Issue suppl_5, 1 December 2011, Pages v1–v3, https://doi.org/10.1093/rheumatology/ker391

Giovanni Valentino Coppa

 Although each individual MPS disorder is somewhat rare, together their frequency is not irrelevant (incidence ∼1 : 25 000). As a group, most of them share, from an early stage of the disease, common clinical features involving bones and joints (joint stiffness, decreased joint mobility, carpal tunnel syndrome, bone abnormalities, etc.). Due to their multiple musculoskeletal manifestations, patients with MPS disorders sooner or later (but fairly often before their underlying illness has been recognized) have to see a rheumatologist. Consequently, it is important that rheumatologists are aware of the clinical manifestations that could be related to MPS diseases, what else to look for and what diagnostic procedures are available.

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