Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

• Published in: Molecular genetics and metabolism Vol. 107; no. 1-2; pp. 136 - 144
• Main Authors: Hwu, Wuh-Liang, Okuyama, Torayuki, But, Wai Man, Estrada, Sylvia, Gu, Xuefan, Hui, Joannie, Kosuga, Motomichi, Lin, Shuan-Pei, Ngu, Lock-Hock, Shi, Huiping, Tanaka, Akemi, Thong, Meow-Keong, Wattanasirichaigoon, Duangrurdee, Wasant, Pornswan, McGill, Jim
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-09-2012
• Subjects: Arylsulfatase B gene (ARSB); Asia; Australia; Enzyme replacement therapy (ERT); Glycosaminoglycan (GAG); Health Care Surveys; Humans; Mucopolysaccharidosis type VI (MPS VI); Mucopolysaccharidosis VI - diagnosis; Mucopolysaccharidosis VI - therapy; Physicians; Surveys and Questionnaires; Australia; Asia; ERT; BMT; GAG; uGAG; Mucopolysaccharidosis type VI (MPS VI); ASB; LSDP; MPS; SCC; NA; DBS; dx; Glycosaminoglycan (GAG); Arylsulfatase B gene (ARSB); HSCT; MDAC; NK; ARSB; Enzyme replacement therapy (ERT)
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2012.07.019

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.
The survey comprised 29 structured quantitative or qualitative questions. Follow-up consultations were undertaken to discuss the data further.
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.
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.
► Our survey assessed practices for diagnosis and management of MPS VI in Asia-Pacific. ► Twenty-two patients with MPS VI were directly treated by the survey respondents. ► About 80% of patients had rapidly progressing disease. ► We found large variation in the use of diagnostic tools and therapies. ► There is a clear need for a multidisciplinary referral network for MPS VI.