Fabry Disease is a genetic metabolic disorder that once diagnosed can result in better managed health for our patients. This case history starts with a common presentation and leads to a positive outcome for the patient and their family.

At the completion of this learning activity, the participant should be able to

• Assess a child with a possible genetic metabolic disorder
• Recall the symptoms and signs of Fabry disease
• Be able to identify an angiokeratoma and a corneal whorl
• Discuss the importance of a full family history when there is suspicion of a genetic disease
• State the underlying principles of the management of Fabry disease
• Indicate the role of testing and referral in the management of Fabry disease

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