Dr Amel Karaa (Harvard Medical School, United States)
LANGUAGE AND DURATION
Language: English
Duration: 30 minutes, followed by questions from the audience
PRESENTER
Presenter: Dr. Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical School.
LEARNING OBJECTIVES
- Understanding the signs and symptoms of lysosomal storage diseases.
- Identifying the key diagnostic features of lysosomal storage diseases and differentiate them from more common diseases.
- Understanding the ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.
COURSE DESCRIPTION
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.
AUDIENCE
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.