Mucopolysaccharidosis: Early Recognition and Management in Primary Care

This session emphasizes the importance of early recognition and intervention in Mucopolysaccharidosis (MPS), focusing on clinical signs often seen in primary care but easily overlooked. Through expert-led presentations and real-world perspectives, participants will gain a clearer understanding of the diagnostic process and the current treatment landscape for MPS.

Expert presentations cover:

• Recognizing the Subtle Signs: Identifying early, often overlooked symptoms of MPS in children presenting with non-specific features.
• Differential Diagnosis and Referral Pathways: Practical guidance on distinguishing MPS from more common conditions and determining when referral to a specialist is appropriate.
• Understanding MPS Treatment: An overview of current treatment strategies, with particular attention to the role and timing of Enzyme Replacement Therapy (ERT).
• The Impact of Early Diagnosis: How timely recognition and management can improve long-term outcomes and quality of life for affected children.

The discussion features:

• Personal experiences from patients or caregivers, offering insights into the diagnostic journey, the emotional and clinical consequences of delayed diagnosis, and the benefits of early treatment.
• Expert reflections from a Pediatric Differential Diagnosis Specialist and a Metabolic Disorders Specialist, focusing on symptom recognition and the role of therapy in patient care.