Mucopolysaccharidoses (MPS): Avoiding The Misdiagnosis Of Rheumatic Conditions With Other Disorders

30 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

Recognise inborn errors of metabolism that can mimic the clinical phenotype of JIA.Learn which key features distinguish genetic disorders from JIA and systemic autoimmune diseases.Learn which diagnostics need to be done to rule out genetic (metabolic) disorders.