Introducing Mucopolysaccharidoses (MPS) And Alpha-mannosidosis: Challenges In Diagnosis And Disease Management

70 minutes
English
Rare Diseases
Mucopolysaccharidosis
MPS

Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.

Learning Objectives

Part 1: Introduction and Overview - What is MPS & Alpha-mannosidosis?How to diagnose MPS/mannosidosis early (early, signs and symptoms).Exploring the latest diagnostic options available to you.Reviewing the pathophysiology of MPS /mannosidosis.Part 2: Red flags, Signs and symptom, the basis of diagnostics and when to refer if you suspect MPS or Alpha- mannosidosisExamining the multi-systemic features of the diseases.Reviewing how to best follow up with patients - what are the immediate next steps?Understanding the latest treatment options available to the patient.