Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses?

Abstract

PurposeMucopolysaccharidoses (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.MethodsWe 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.ResultsThere 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.ConclusionsOrthopaedic 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.

Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review

“…As these MPS types are associated with prominent musculoskeletal involvement, including widespread skeletal dysplasia (dysostosis multiplex), 28 it can be assumed that TTS would occur most commonly in these types, as well as MPS II and less commonly in MPS IV, where joint instability predominates and nerve compression syndromes are rare and also MPS III, which is characterised by prominent neurocognitive decline. 29 MPS patients have increased risk of surgical and anaesthetic complications 28,29 and some high-risk surgical procedures may be performed in MPS patients without evidence of improvement in quality of life and function. [28][29][30] The only surgical complication documented in this series was a wound dehiscence requiring re-suturing under general anaesthetic.…”

“…29 MPS patients have increased risk of surgical and anaesthetic complications 28,29 and some high-risk surgical procedures may be performed in MPS patients without evidence of improvement in quality of life and function. [28][29][30] The only surgical complication documented in this series was a wound dehiscence requiring re-suturing under general anaesthetic. Surgical benefit with symptomatic relief was seen in two patients, with no benefit of surgery in a third.…”

Mucopolysaccharidoses and Orthopedic Management (Focused also on Craniocervical Junction)

“…It seems that radiological findings and clinical outcome do not correlate. 8 A retrospective study, analyzed 88 hips in 44 children with MPS I and II to understand the hip morphology. X-rays evaluated hip migration, femoral head sphericity, and acetabular dysplasia at different ages throughout childhood.…”

“…In a study of 23 MPS IVA patients who received different hemiepiphysiodesis techniques at a mean age of 8.3 years, 19 patients remained mobile, 30% showed improvement in the 6-minute walk test (6MWT) and 3 patients showed immobility without obvious medical reason in an average followup of 44 months. 8 The only case report of an MPS VI patient indicates that genu valgum is a complication in this disease. 4,17 There is no literature about MPS III and genua valga.…”

“…One paper recommends partial resection of the flexor digitorum superficialis tendon and careful debridement of the tenosynovial deposits to reduce recurrence. 8,43,44…”