Publication: Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Issued Date
2012-09-01
Resource Type
ISSN
10967206
10967192
10967192
Other identifier(s)
2-s2.0-84866154516
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Molecular Genetics and Metabolism. Vol.107, No.1-2 (2012), 136-144
Suggested Citation
Wuh Liang Hwu, Torayuki Okuyama, Wai Man But, Sylvia Estrada, Xuefan Gu, Joannie Hui, Motomichi Kosuga, Shuan Pei Lin, Lock Hock Ngu, Huiping Shi, Akemi Tanaka, Meow Keong Thong, Duangrurdee Wattanasirichaigoon, Pornswan Wasant, Jim McGill Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Molecular Genetics and Metabolism. Vol.107, No.1-2 (2012), 136-144. doi:10.1016/j.ymgme.2012.07.019 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/13630
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Title
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Other Contributor(s)
National Taiwan University Hospital
National Center for Child Health and Development
Queen Elizabeth Hospital Hong Kong
University of the Philippines College of Medicine
Philippine General Hospital
National Institutes of Health, Bethesda
Shanghai Jiao Tong University School of Medicine
Prince of Wales Hospital Hong Kong
Mackay Memorial Hospital Taiwan
Kuala Lumpur Hospital
Peking Union Medical College
Osaka City University
University of Malaya
Mahidol University
Royal Children's Hospital Brisbane
National Center for Child Health and Development
Queen Elizabeth Hospital Hong Kong
University of the Philippines College of Medicine
Philippine General Hospital
National Institutes of Health, Bethesda
Shanghai Jiao Tong University School of Medicine
Prince of Wales Hospital Hong Kong
Mackay Memorial Hospital Taiwan
Kuala Lumpur Hospital
Peking Union Medical College
Osaka City University
University of Malaya
Mahidol University
Royal Children's Hospital Brisbane
Abstract
Introduction: Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. It presents significant diagnostic and treatment challenges due to the rarity of the disease and complexity of the phenotype. As information about MPS VI in Asia-Pacific countries is limited, a survey was conducted to assess current practices for diagnosis and management of MPS VI in this region. The participants were selected based on their experience in diagnosing and managing MPS patients. Methods: The survey comprised 29 structured quantitative or qualitative questions. Follow-up consultations were undertaken to discuss the data further. Results: Thirteen physicians from eight countries or regions (Australia, China, Hong Kong, Japan, Malaysia, Philippines, Taiwan and Thailand) were surveyed. At the time of the survey twenty-two patients with MPS VI were directly treated by the respondents and most (~80%) had rapidly progressing disease. A wide range of medical specialists are involved in managing patients with MPS VI, the most common being orthopedic surgeons, pediatricians and geneticists. The availability/accessibility of diagnostic tools, therapies and national insurance coverage vary greatly across the countries/regions and, in some cases, between different regions within the same country. Currently, there are national MPS management groups in Australia and Japan. Australia, Taiwan and Hong Kong have local guidelines for managing MPS and local MPS registries are available in Australia, Taiwan, and Japan. Conclusions: This survey highlights differences in the diagnosis and management of MPS VI between Asia-Pacific countries/regions. Important barriers to advancing the identification, understanding and treatment of MPS VI include the paucity of epidemiological information, limited access to laboratory diagnostics and therapies, low disease awareness, and a lack of monitoring and treatment guidelines. There is a clear need to facilitate communications between physicians and establish regional or national disease registries, a multidisciplinary referral network, and a centralized diagnostic and management framework. © 2012 Elsevier Inc.