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Discussing the unique challenges in identifying Fabry disease and what key signs and symptoms of which pediatricians should be aware. Learning Objectives: (1) A better understanding of the signs and symptoms of Gaucher disease. (2) Ability to identify the key diagnostic features of Gaucher disease. (3) Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.

Lecture Summary:

  • Brief introduction on Gaucher disease, the first subtype of lysosomal storage diseases that had an effective enzyme replacement therapy.
  • Discuss current diagnostic methods including the unique challenges in identifying Gaucher disease and the shortcomings in current diagnostic options – Objective: Give pediatricians a basic understanding of the main diagnostic procedures for Gaucher disease to prevent costly delays in diagnosis that prevent patients from prompt treatment.
  • The importance of genotyping – Objective: Pediatricians will learn the importance of determining the specific genetic mutation affecting the Gaucher disease gene and the implications for other family members.
  • Consequences of delayed diagnosis and treatment – Objective: Pediatricians will learn that better clinical outcomes are associated with earlier diagnosis and how the varied manifestations of this disorder impact a patient’s quality of life.
  • What to look for – Objective: Pediatricians will learn how to recognize the key diagnostic features of Gaucher disease as well as uncommon presentations of the disorder that are not obviously connected to the underlying enzyme defect.
  • A heterogeneous disorder – Objective: Pediatricians will learn that there is a broad potential disease expression in Gaucher disease including diverse manifestations, a broad range in age of onset, and a wide clinical spectrum of disease severity.
  • Much to learn – Objective: Much about Gaucher disease is still not fully understood. Pediatricians will learn what aspects of the disorder still have unresolved questions including a full understanding of disease pathogenesis, the best management strategies for neuropathic disease, the underlying pathogenesis of bone disease, and the specific factors that cause the highly variable nature of the disorder.
  • Next steps – Objective: Pediatricians will learn where to refer patients to a specialist for treatment decisions and what organizations exist that can provide support and education for Gaucher patients.