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Open AccessFeature PaperReview

The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease

Aragon Health Research Institute (ISS Aragón), Department of Internal Medicine, Unit of Rare Disorders, “Lozano Blesa” University Hospital, 15th San Juan Bosco Avenue, 50009 Zaragoza, Spain
Author to whom correspondence should be addressed.
Diseases 2018, 6(3), 69;
Received: 3 July 2018 / Revised: 20 July 2018 / Accepted: 23 July 2018 / Published: 26 July 2018
(This article belongs to the Collection Lysosomal Storage Diseases)
Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners, supportive care providers, and patients. Phenotype classification and the setting of treatment goals are important for optimizing the management of type I GD, and for providing personalized care. The ability to classify disease severity using validated measurement tools allows the standardization of patient monitoring, and the measurement of disease progression and treatment response. Defining treatment goals is useful to provide a benchmark for assessing treatment response and managing the expectations of patients and their families. Although treatment goals will vary depending on disease severity, they include the stabilization, improvement or reversal (if possible) of clinical manifestations. Enzyme replacement therapy (ERT) is the standard care for patients with type I GD, but a novel substrate reduction therapy (SRT), Eliglustat, has demonstrated safety and efficacy in selected patients. To ensure that treatment goals are being achieved, regular and comprehensive follow up are necessary. View Full-Text
Keywords: multidisciplinary; Gaucher; genotype/phenotype correlation; genetic counselling multidisciplinary; Gaucher; genotype/phenotype correlation; genetic counselling
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Torralba-Cabeza, M.-Á.; Olivera-González, S.; Sierra-Monzón, J.-L. The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease. Diseases 2018, 6, 69.

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