PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS. METHODS: We reviewed the available literature to look for reported outcomes of orthopaedic surgery to lower and upper limbs and the spine. In addition, we describe the general and MPS-specific health measures that might be of relevance to the orthopaedic surgeon. RESULTS: There is some evidence in the literature that orthopaedic surgery may improve QoL and function in some specific aspects of the MPS condition (in relation to genu valgum, carpal tunnel syndrome and trigger digits); however, the literature is sparse and consists of level 4/5 studies only. Further studies of these conditions should include QoL and functional assessment in order to confirm or refute these reports. In other areas (spine and hip), outcomes are judged largely on radiographic appearances with little clinical correlation and short follow-up; however, one long-term study of function following hip dysplasia surgery suggests poor outcomes. Anaesthetic morbidity/mortality is not insignificant in these complex patients with multi-organ involvement. Careful assessment is required, particularly when there is neurological involvement. CONCLUSIONS: Orthopaedic surgeons involved with MPS patients should be encouraged to use and report measures of QoL and function with respect to musculoskeletal manifestations and response to surgery, recognising that such assessments in these complex and challenging patients may require a multidisciplinary approach
