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.
Original language | English (US) |
---|---|
Article number | 72 |
Journal | Orphanet journal of rare diseases |
Volume | 6 |
Issue number | 1 |
DOIs | |
State | Published - 2011 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics(clinical)
- Pharmacology (medical)
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Mucopolysaccharidosis type II : European recommendations for the diagnosis and multidisciplinary management of a rare disease. / Scarpa, Maurizio; Almássy, Zsuzsanna; Beck, Michael; Bodamer, Olaf; Bruce, Iain A.; De Meirleir, Linda; Guffon, Nathalie; Guillén-Navarro, Encarna; Hensman, Pauline; Jones, Simon; Kamin, Wolfgang; Kampmann, Christoph; Lampe, Christina; Lavery, Christine A.; Leão Teles, Elisa; Link, Bianca; Lund, Allan M.; Malm, Gunilla; Pitz, Susanne; Rothera, Michael; Stewart, Catherine; Tylki-Szymaska, Anna; Van Der Ploeg, Ans; Walker, Robert; Zeman, Jiri; Wraith, James E.
In: Orphanet journal of rare diseases, Vol. 6, No. 1, 72, 2011.Research output: Contribution to journal › Review article › peer-review
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TY - JOUR
T1 - Mucopolysaccharidosis type II
T2 - 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 - Leão Teles, Elisa
AU - Link, Bianca
AU - Lund, Allan M.
AU - Malm, Gunilla
AU - Pitz, Susanne
AU - Rothera, Michael
AU - Stewart, Catherine
AU - Tylki-Szymaska, Anna
AU - Van Der Ploeg, Ans
AU - Walker, Robert
AU - Zeman, Jiri
AU - Wraith, James E.
N1 - Funding Information: EG-N has received travel grants from Shire Human Genetic Therapies. EG-N is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. PH has no competing interests. SJ has received travel assistance and honoraria for lectures, and consultancy fees from Shire Human Genetic Therapies. SJ is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. WK has received honoraria for giving lectures at symposia arranged by Shire Human Genetic Therapies and partial funding for travel to the symposia. CK has received research funding, consultancy fees and/or speaker’s fees from Shire Human Genetic Therapies, Genzyme Corporation, Actelion Pharmaceuticals Ltd and BioMarin Pharmaceutical, Inc. CL has received speaker’s honoraria from Shire Human Genetic Therapies, BioMarin Pharmaceutical, Inc. and Genzyme Corporation and partial funding for medical advice. CAL has received reimbursement of expenses and honoraria from Shire Human Genetic Therapies and Genzyme Corporation. The Society for Mucopolysaccharide Diseases (UK) has received educational grants from Genzyme Corporation, Shire Human Genetic Therapies, BioMarin Pharmaceutical, Inc. and Amicus Therapeutics, Inc. The Society for Mucopolysaccharide Diseases also receives fees and reimbursement of expenses in respect of clinical trial patient access from BioMarin Pharmaceutical, Inc. and Shire Human Genetic Therapies. ELT has received funding for travel and expenses for attendance at scientific meetings sponsored by Shire Human Genetic Therapies and is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. BL has received honoraria and travel expenses for attending and presenting at scientific meetings and sitting advisory boards sponsored by Shire Human Genetic Therapies, Genzyme Corporation and BioMarin Pharmaceutical, Inc. BL has also received honoraria for providing writing, medical and/or administrative support to Shire Human Genetic Therapies, Genzyme Corporation and BioMarin Pharmaceutical, Inc. BL is a member of the publication steering committee for LSDs, which is sponsored by Shire Human Genetic Therapies. BL also receives honoraria for development of educational presentations for Genzyme Corporation. BL’s institution receives research grants from Shire Human Genetic Therapies and BioMarin Pharmaceutical, Inc. AML has served on scientific advisory boards and as a consultant for Shire Human Genetic Therapies, Zymenex A/S, and Genzyme Corporation. AML has received funding for travel from Genzyme Corporation and Shire Human Genetic Therapies, and receives research support from Shire Human Genetic Therapies and Genzyme Corporation. AML is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. GM has received reimbursements for giving lectures at symposia arranged by Shire Human Genetic Therapies and partial funding for travel to the symposia. GM is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. SP has received travel grants, speakers’ honoraria and scientific grants from Shire Human Genetic Therapies, as well as travel grants from BioMarin Pharmaceutical, Inc. and Genzyme Corporation. MR has no competing interests. CS has received funding from Shire Human Genetic Therapies for travel to LSD symposia. AT-S has received speaker’s honoraria and is a principal investigator in clinical trials conducted by Shire Human Genetic Therapies. AT-S is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. AvdP is a member of the HSEEC and the Hunter Outcome Survey Board, which receive financial support from Shire Human Genetic Therapies. RW has no competing interests. JZ is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. JEW is member of the HSEEC and Global advisory board, which receive financial support from Shire Human Genetic Therapies. JEW has received honoraria and travel expenses for presenting at scientific meetings sponsored by Shire Human Genetic Therapies. Funding Information: MS has received honoraria and travel expenses for presenting at scientific meetings and sitting on advisory boards sponsored by BioMarin Pharmaceutical, Inc., Genzyme Corporation and Shire Human Genetic Therapies, and is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. MS also receives honoraria for development of educational presentations for Genzyme Corporation and Shire Human Genetic Therapies. MS’s institution receives research grants from Genzyme Corporation and Shire Human Genetic Therapies. ZA has received reimbursement for presenting lectures at symposia arranged by Shire Human Genetic Therapies and partial funding for travel to these symposia. ZA is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. MB has received honoraria, travel support and unrestricted grants from Shire Human Genetic Therapies, Genzyme Corporation, BioMarin Pharmaceutical, Inc. and Actelion Pharmaceuticals Ltd. MB is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. OB is a member of a Speakers’ Bureau for Shire, Inc. OB is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. IAB has received travel grants and honoraria from Shire Human Genetic Therapies to attend and deliver lectures at medical meetings. LDM has received honoraria and travel expenses for presenting at scientific meetings and sitting on advisory boards sponsored by Genzyme Corporation and Shire Human Genetic Therapies. LDM is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. NG’s institution has received funding from Shire Human Genetic Therapies for involvement in a patient registry, clinical trials and for travel and accommodation during a LSD symposium. NG is a member of the HSEEC, which receives financial support from Shire Human Genetic Therapies. Funding Information: The HSEEC receives financial support from Shire Human Genetic Therapies. Scientific editorial assistance was provided by Dr Jonathan Morton (Oxford PharmaGenesis™ Ltd, UK), Dr Terence Eagleton (previously Medical Director, Europe, the Middle East and Africa; Shire Human Genetic Therapies) and Dr Paul Marcus, an independent pharmaceutical physician, and was funded by Shire Human Genetic Therapies. Consent Consent has been obtained from the patient’s mother for publication of the associated image in Figure 1.
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.
UR - http://www.scopus.com/inward/record.url?scp=80355132630&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80355132630&partnerID=8YFLogxK
U2 - 10.1186/1750-1172-6-72
DO - 10.1186/1750-1172-6-72
M3 - Review article
C2 - 22059643
AN - SCOPUS:80355132630
VL - 6
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 72
ER -