Language: English
Duration: 44 minutes, followed by questions from the audience



Presenter: Dr. Sylvia Kamphuis, Erasmus MC, Rotterdam, The Netherlands



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



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.

The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Endocrinologists, Pediatric Rheumatologists, and other physicians and healthcare professionals interested in Metabolic Diseases.


Watch the video!