Abstract
Background: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS.
Patients and Methods: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry. All included patients had a filter paper blood spot sample taken that was subsequently analyzed enzymatically for MPS I, II, and VI.
Results: 425 patients were included. 402 patients tested negative in the first test. 23 had inconclusive result whereof 18 was negative in a second test. The remaining five patients had two inconclusive tests each and were referred for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI.
Discussion/Conclusion: Though our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with monosymptomatic CTS, and that screening is not indicated in this setting.
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Communicated by: Frits Wijburg
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Take Home Message
Screening of MPS in adult patients with monosymptomatic CTS is not indicated.
Conflict of Interest
The study was supported by a research grant from Genzyme, Shire, and Biomarin. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Mette Borch Nørmark has accepted reimbursement for attending SSIEM in 2015 from Genzyme and has received a grant from the sponsors.
Allan Meldgaard Lund has accepted travel reimbursement and honoraria from Genzyme and Shire.
Nanna Kjaer has a received a grant from the sponsors.
Informed Consent
All procedures followed were done in accordance with the Helsinki Declaration of 1975 and were approved by the health research ethics committee (journal number H-2-2011-096) in Copenhagen, Denmark. Informed consent was obtained from all participants to be included in the study.
Animal Rights
This article does not contain any studies with animal subjects performed by any of the authors.
Details of the Contributions of Individual Authors
MBN was involved in designing the study, contacted the patients, collected, and analyzed the data and drafted the manuscript.
AML was involved in designing the study, gave advice on data collection and analysis and critically revised the manuscript.
NK was involved in contacting the patients and collecting data.
All authors approved the final version of the manuscript.
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Nørmark, M.B., Kjaer, N., Lund, A.M. (2017). Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 36. JIMD Reports, vol 36. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_32
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DOI: https://doi.org/10.1007/8904_2016_32
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