Paediatric Fabry disease

Posted On 2016-01-20 11:30:20

Physicians should be familiar with early signs and symptoms of Fabry disease, which should be considered in the differential diagnosis when a young patient presents with one or more unusual or non-specific but recurrent or episodic symptoms, particularly unexplained neuropathic pain, gastrointestinal symptoms, exercise intolerance, fatigue and hypohidrosis. Early recognition of Fabry related symptoms and initiation of enzyme replacement therapy prior to irreversible organ damage is crucial.