Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 3 July 2018 / Approved: 5 July 2018 / Online: 5 July 2018 (08:51:35 CEST)

A peer-reviewed article of this Preprint also exists.

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. 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.

Abstract

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 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, comprehensive follow up is necessary.

Keywords

multidisciplinary; Gaucher; genotype/phenotype correlation; genetic counselling

Subject

Medicine and Pharmacology, Pathology and Pathobiology

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