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

Abstract

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

Gaucher’s Disease – current state of knowledge and future perspectives?

“…Physical therapy, through exercises, strengthens muscles and improves joint functionality, providing significant pain relief (59). Moreover, in cases of severe bone complications such as fractures or bone necrosis, orthopedic interventions may be necessary.…”

Multidisciplinary approach in the management of hATTR

“…Access to a full range of therapeutic options must be ensured, irrespective of geographical constraints, and care must be provided according to evidence‐based information. Finally, patients must be involved in their care discussions and management 16,17 …”

“…Multidisciplinary teams must overcome a series of challenges, such as the financial and legislative frameworks that limit the scope of clinical practice, the lack of professional training in a holistic approach, the lack of formal evaluation criteria and logistic factors 16,17 …”