Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Journal
Molecular Genetics and Metabolism
Journal Volume
107
Journal Issue
1月2日
Pages
136-144
Date Issued
2012
Author(s)
Okuyama T.
But W.M.
Estrada S.
Gu X.
Hui J.
Kosuga M.
Lin S.-P.
Ngu L.-H.
Shi H.
Tanaka A.
Thong M.-K.
Wattanasirichaigoon D.
Wasant P.
McGill J.
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.
Subjects
Arylsulfatase B gene (ARSB); Enzyme replacement therapy (ERT); Glycosaminoglycan (GAG); Mucopolysaccharidosis type VI (MPS VI)
SDGs
Other Subjects
glycosaminoglycan; iduronate 2 sulfatase; laronidase; article; audiometry; Australia; bone marrow transplantation; China; chromatography; consultation; diagnostic imaging; diagnostic procedure; diagnostic test; disease registry; electrocardiogram; electrophoresis; enzyme assay; enzyme replacement; eye examination; fibroblast; fluorometry; follow up; geneticist; health care access; health insurance; hematopoietic stem cell transplantation; Hong Kong; human; Japan; laboratory test; leukocyte; lung function test; Malaysia; Maroteaux Lamy syndrome; mass spectrometry; medical specialist; molecular diagnosis; mutational analysis; nuclear magnetic resonance imaging; orthopedic surgeon; pediatrician; Philippines; physical examination; plasma; practice guideline; priority journal; qualitative analysis; quantitative analysis; radiography; range of motion; spectrophotometry; structured questionnaire; surgical technique; Taiwan; Thailand; toluidine blue spot; X ray; Asia; Australia; Health Care Surveys; Humans; Mucopolysaccharidosis VI; Physicians; Questionnaires
Type
journal article