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Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

A. Tylki-Szymańska, L. De Meirleir, M. Di Rocco, WM. Fathalla, N. Guffon, C. Lampe, AM. Lund, R. Parini, FA. Wijburg, J. Zeman, M. Scarpa,

. 2018 ; 107 (8) : 1402-1408. [pub] -

Language English Country Norway

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc19045444

AIM: The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). METHODS: An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real-world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested. RESULTS: An algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler-Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) - 16 Hurler, nine Hurler-Scheie and seven Scheie patients - would have been referred earlier if the algorithm had been used. CONCLUSION: The expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.

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$a De Meirleir, Linda $u Department of Paediatric Neurology and Metabolic Diseases, Brussels, Belgium.
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$a Di Rocco, Maja $u Unit of Rare Diseases, Department of Paediatrics, IRCCS Giannina Gaslini, Genova, Italy.
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$a Fathalla, Waseem M $u Division of Child Neurology, Department of Pediatrics, Mafraq Hospital, Bani Yas, Abu Dhabi, United Arab Emirates.
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$a Guffon, Nathalie $u Reference Centre of Metabolic Diseases, Hôpital Femme Mère Enfant (HFME), Bron, France.
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$a Lampe, Christina $u Center for Rare Diseases, Clinic for Paediatric and Adolescent Medicine, HELIOS Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
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$a Lund, Allan M $u Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
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$a Parini, Rossella $u Rare Metabolic Diseases Unit, Paediatric Clinic, Fondazione MBBM, San Gerardo University Hospital, Monza, Italy.
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$a Wijburg, Frits A $u Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
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$a Zeman, Jiri $u Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
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$a Scarpa, Maurizio $u Center for Rare Diseases, Clinic for Paediatric and Adolescent Medicine, HELIOS Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany. Department of Pediatrics, University of Padova, Padova, Italy.
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