Mucopolysaccharidosis: Early Recognition and Management in Primary Care

Session Structure and Learning Objectives

This session will highlight the importance of early recognition and intervention in Mucopolysaccharidosis (MPS), focusing on the clinical signs that may appear in primary care settings and often go unrecognized. Through expert-led presentations and real-world perspectives, attendees will gain a clear understanding of the diagnostic process and treatment landscape for MPS.

Expert presentations will cover:

• Recognizing the Subtle Signs: How to identify early, often overlooked symptoms of MPS in children presenting with non-specific clinical features.
• Differential Diagnosis and Referral Pathways: Guidance on distinguishing MPS from more common conditions and when to refer to a specialist.
• Understanding MPS Treatment: An overview of current treatment approaches, with a focus on the role and timing of Enzyme Replacement Therapy (ERT).
• The Impact of Early Diagnosis: How early detection and timely management can significantly improve long-term outcomes and quality of life for affected children.

The discussion will feature:

• Real-life experiences shared by patients or caregivers, offering insights into the diagnostic journey, the emotional and clinical impact of delayed diagnosis, and the value of early treatment.
• Reflections from a Pediatric Differential Diagnosis Specialist and a Metabolic Disorders Specialist, who will elaborate on symptom identification and the role of therapy in patient care.

The session will conclude with an open Q&A, where participants will be invited to ask questions and receive direct responses from the expert panel, helping to clarify diagnostic challenges and explore practical management strategies.

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