Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymanska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith; Anna Tylki-Szymańska

doi:10.1186/1750-1172-6-72

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link, Allan M Lund, Gunilla Malm, Susanne Pitz, Michael RotheraCatherine Stewart, Anna Tylki-Szymanska, Ans van der Ploeg, Robert Walker, Jiri Zeman, James E Wraith, Anna Tylki-Szymańska

119 Citationer (Scopus)

Abstract

Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

Originalsprog	Engelsk
Tidsskrift	Orphanet Journal of Rare Diseases
Vol/bind	6
Sider (fra-til)	72
ISSN	1750-1172
DOI	https://doi.org/10.1186/1750-1172-6-72 https://doi.org/10.1186/1750-1172-6-72
Status	Udgivet - 2011

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Scarpa, M., Almássy, Z., Beck, M., Bodamer, O., Bruce, I. A., De Meirleir, L., Guffon, N., Guillén-Navarro, E., Hensman, P., Jones, S., Kamin, W., Kampmann, C., Lampe, C., Lavery, C. A., Teles, E. L., Link, B., Lund, A. M., Malm, G., Pitz, S., ... Tylki-Szymańska, A. (2011). Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet Journal of Rare Diseases, 6, 72. https://doi.org/10.1186/1750-1172-6-72, https://doi.org/10.1186/1750-1172-6-72

Scarpa, M, Almássy, Z, Beck, M, Bodamer, O, Bruce, IA, De Meirleir, L, Guffon, N, Guillén-Navarro, E, Hensman, P, Jones, S, Kamin, W, Kampmann, C, Lampe, C, Lavery, CA, Teles, EL, Link, B, Lund, AM, Malm, G, Pitz, S, Rothera, M, Stewart, C, Tylki-Szymanska, A, van der Ploeg, A, Walker, R, Zeman, J, Wraith, JE & Tylki-Szymańska, A 2011, 'Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease', Orphanet Journal of Rare Diseases, bind 6, s. 72. https://doi.org/10.1186/1750-1172-6-72, https://doi.org/10.1186/1750-1172-6-72

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title = "Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease",

abstract = "Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.",

author = "Maurizio Scarpa and Zsuzsanna Alm{\'a}ssy and Michael Beck and Olaf Bodamer and Bruce, {Iain A} and {De Meirleir}, Linda and Nathalie Guffon and Encarna Guill{\'e}n-Navarro and Pauline Hensman and Simon Jones and Wolfgang Kamin and Christoph Kampmann and Christina Lampe and Lavery, {Christine A} and Teles, {Elisa Le{\~a}o} and Bianca Link and Lund, {Allan M} and Gunilla Malm and Susanne Pitz and Michael Rothera and Catherine Stewart and Anna Tylki-Szymanska and {van der Ploeg}, Ans and Robert Walker and Jiri Zeman and Wraith, {James E} and Anna Tylki-Szyma{\'n}ska",

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doi = "10.1186/1750-1172-6-72",

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pages = "72",

journal = "Orphanet Journal of Rare Diseases",

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TY - JOUR

T1 - Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

AU - Scarpa, Maurizio

AU - Almássy, Zsuzsanna

AU - Beck, Michael

AU - Bodamer, Olaf

AU - Bruce, Iain A

AU - De Meirleir, Linda

AU - Guffon, Nathalie

AU - Guillén-Navarro, Encarna

AU - Hensman, Pauline

AU - Jones, Simon

AU - Kamin, Wolfgang

AU - Kampmann, Christoph

AU - Lampe, Christina

AU - Lavery, Christine A

AU - Teles, Elisa Leão

AU - Link, Bianca

AU - Lund, Allan M

AU - Malm, Gunilla

AU - Pitz, Susanne

AU - Rothera, Michael

AU - Stewart, Catherine

AU - Tylki-Szymanska, Anna

AU - van der Ploeg, Ans

AU - Walker, Robert

AU - Zeman, Jiri

AU - Wraith, James E

AU - Tylki-Szymańska, Anna

PY - 2011

Y1 - 2011

N2 - Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

AB - Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

U2 - 10.1186/1750-1172-6-72

DO - 10.1186/1750-1172-6-72

M3 - Journal article

C2 - 22059643

SN - 1750-1172

VL - 6

SP - 72

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

ER -

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

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