Spot the Early Signs Webinar Learning Objectives


Gaucher Disease: Spot the Early Signs in the Pediatric Population
Learning Objectives: • Reviewing the signs that should raise a high suspicion of Gaucher disease • Differential diagnosis of the three clinical phenotypes • When to start treatment?

Fabry Disease - Do We Need Better Biomarkers in Lysosomal Storage Disorders?
Learning Objectives: • What are biomarkers and why do we need them? • Are there reliable biomarkers for diagnosis, early identification of organ involvement and prognosis of lysosomal storage disorders? • What tool scan we use to identify new biomarkers?

Spotting the Signs of Lysosomal Storage Diseases in Order to Make an Early Diagnosis
Learning Objectives: • Understand how Lysosomal Storage Disorders (LSDs) are a large group of inborn errors of metabolism characterized by specific accumulated metabolites; • Review how clinical manifestations are broad, usually involve multiple organs, and have overlap between different disease groups: • Explore how neurological manifestations are the most common presentation: LSDs should be considered in the differential diagnosis of neurological regression, epilepsy and/or multisystem disease (dysmorphism,hepatosplenomegaly, skeletal abnormalities, cardiac disease,….) • Examining Urine oligosaccharides and glycosaminoglycan (GAG) screening as useful tools to identify LSDs-Definitive diagnosis can be made by enzyme and/or molecular analysis; • Concluding that most of LSDs are inheritable diseases and a proper diagnosis is important in order to provide appropriate genetic counseling.

Spot the Early Signs of Mucopolysaccharidoses - One Disease with Many Faces
Learning Objectives: • Understand the pathophysiology and recognize the different types of mucopolysaccharidosis • Recognize better the differences of the specific first symptoms and which tests should be done • Consider possible opportunities for therapy which depend on MPS-type and age

get updates

connect