title: Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.forename: Wai Man
authors.initials: WM
authors.lastname: But
authors.forename: Sylvia
authors.initials: S
authors.lastname: Estrada
authors.forename: Xuefan
authors.initials: X
authors.lastname: Gu
authors.forename: Joannie
authors.initials: J
authors.lastname: Hui
authors.forename: Motomichi
authors.initials: M
authors.lastname: Kosuga
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Lock-Hock
authors.initials: LH
authors.lastname: Ngu
authors.forename: Huiping
authors.initials: H
authors.lastname: Shi
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Meow-Keong
authors.initials: MK
authors.lastname: Thong
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Pornswan
authors.initials: P
authors.lastname: Wasant
authors.forename: Jim
authors.initials: J
authors.lastname: McGill
mesh_terms: D001208:Asia; D001315:Australia; D019538:Health Care Surveys; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000628:therapy*; D010820:Physicians; D011795:Surveys and Questionnaires