Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey

• Autor(a) principal: Clarke,Lorne
• Data de Publicação: 2018
• Outros Autores: Ellaway,Carolyn, Foster,Helen E., Giugliani,Roberto, Goizet,Cyril, Goring,Sarah, Hawley,Sara, Jurecki,Elaina, Khan,Zaeem, Lampe,Christina, Martin,Ken, McMullen,Suzanne, Mitchell,John J., Mubarack,Fathima, Sivri,H. Serap, Villarreal,Martha Solano, Stewart,Fiona J., Tylki-Szymanska,Anna, White,Klane, Wijburg,Frits
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Journal of Inborn Errors of Metabolism and Screening
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100317
• topic: mucopolysaccharidoses; mucopolysaccharidoses I; mucopolysaccharidoses II; mucopolysaccharidoses III; mucopolysaccharidoses IV; mucopolysaccharidoses VI; mucopolysaccharidoses VII; diagnosis

Abstract As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysosomal function. As quality of outcomes with current therapies is impacted by timing of intervention, minimizing time to diagnosis is critical. The objective of this study was to characterize how, when, and to whom patients with MPS first present and develop tools to stimulate earlier recognition of MPS. A tripartite approach was used, including a systematic literature review yielding 194 studies, an online physician survey completed by 209 physicians who described