When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs

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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 Fabry disease. (2) Ability to identify the key diagnostic features of Fabry disease. (3) Understanding the complexities of treatment for Fabry disease including differences in treating males and females, when to best begin treatment for individuals, and the overall best treatment practices to ensure a healthy, active lifestyle.

Lecture Summary:

  • Brief introduction on Fabry disease, including the main clinical presentations of the disorder.
  • Discuss the unique challenges in identifying Fabry disease and what key signs and symptoms of which pediatricians should be aware – Objective: Give pediatricians a basic understanding of the main diagnostic signs and symptoms indicating Fabry disease, specific diagnosis tests that support a diagnosis, and how to confirm a diagnosis.
  • The importance of family history and genotyping – Objective: Pediatricians will learn the importance of identifying the specific genetic mutation affecting a family.
  • Understanding the differences of Fabry disease in males and females – Objective: Pediatricians will learn the differences in how Fabry disease is expressed in both genders noting that females can develop a wide range of symptoms including a severe expression of the disease as well as the implications of X-linked inheritance and X-inactivation.
  • Enzyme replacement therapy – Objective: Pediatricians will learn about enzyme replacement therapy (ERT), the only FDA-approved treatment for Fabry disease in the U.S., and why early diagnosis and treatment is key in maximizing the benefit of ERT.  
  • Organ specific treatment and symptom management – Objective: Pediatricians will learn the varied treatment options for specific symptom management in order to improve quality of life and ensure a healthy, active life.
  • One size does not fit all – Objective: Pediatricians will learn that treatment for Fabry disease is a complex subject with no ‘one size fits all’ answer. Pediatricians will learn when its best to start treatment, how to evaluate whether treatments are working, and differences in treating males and females. 

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