JIMD Reports, Volume 26

da Rocha Siqueira, Thabata Caroline, de Souza, Carolina Fischinger Moura, Lompa, Paulo, Picarelli, Mercedes, Scheibel, Ilóite, Bender, Fernanda, Guidobono, Régis, Burin, Maira Graeff, Giugliani, Roberto, Thabata Caroline da Rocha Siqueira, Carolina Fischinger Moura de Souza, Paulo Lompa, Mercedes Picarelli, Ilóite Scheibel, Fernanda Bender, Régis Guidobono, Maira Graeff Burin, Roberto Giugliani

The mucopolysaccharidoses (MPS) are a group of 11 inborn errors of metabolism (IEM) which are part of the lysosomal storage diseases (LSDs). The MPS are multisystemic conditions that affect the entire body, with variations in the clinical presentation, having specific treatments available depending on the type of MPS. Nearly all MPS disorders compromise the osteoarticular system in different ways, and virtually all patients have abnormal urinary excretion of glycosaminoglycans (GAGs). MPS are rare diseases that are underdiagnosed due to health-care professionals' lack of awareness, to poor access to screening and diagnostic methods, and to their extensive clinical heterogeneity. Attenuated forms may occur, which can make diagnosis of MPS even more difficult. This study was conducted prospectively from March 2012 to January 2014 and included 55 patients at rheumatology and/or orthopedic services in Porto Alegre, Brazil. The screened patients presented with articular manifestations with no defined etiology. These patients were screened by quantitative and qualitative assessment of urinary GAGs. Among the 55 cases investigated, one 15-year-old patient exhibited increased urinary GAG excretion; this patient was subsequently diagnosed with an attenuated form of MPS II, which was previously undetected. Although the proportion of patients with MPS identified in the study sample was small (1/55), this study shows that these diseases are underdiagnosed and that systematic screening can help identify patients who may benefit from specific treatments already available for several MPS types.