[Multidisciplinary treatment in the long-term management of Fabry disease]

Area of Science:

• Genetics and rare diseases
• Enzyme replacement therapy
• Clinical management

Context:

• Fabry disease is a rare X-linked hereditary condition caused by mutations in the alpha-galactosidase A (GLA) gene.
• Diverse clinical manifestations often lead to delayed diagnosis and increased patient burden.
• Multidisciplinary treatment (MDT) involving various specialties is crucial for managing Fabry disease.

Purpose:

• To provide practical guidance for Chinese clinicians on Fabry disease management.
• Focus on early screening strategies.
• Outline indications for enzyme replacement therapy (ERT), pre-treatment evaluation, and monitoring.

Summary:

• This study addresses the challenges in diagnosing and managing Fabry disease due to its varied presentation.
• It emphasizes the importance of early screening and a multidisciplinary approach.
• Key aspects covered include ERT indications, pre-treatment assessments, and ongoing patient monitoring.

Impact:

• Aims to improve the early detection and long-term care of Fabry disease patients in China.
• Facilitates better integration of multidisciplinary teams in Fabry disease management.
• Provides actionable insights for clinicians to optimize treatment strategies and reduce disease burden.