Fast Five Quiz: Fabry Disease Presentation and Diagnosis

Helmi L. Lutsep, MD


April 06, 2021

Children with Fabry disease may experience episodic Fabry crises characterized by debilitating sharp pain lasting minutes to days in the fingers, the toes, and occasionally the entire extremity. Crises can be triggered by any kind of stress, including disease, extremes in temperature, exercise, or emotional trauma. Another type of pain characteristic of Fabry disease is a nagging, chronic, constant discomfort in the hands and feet, characterized by burning, tingling paresthesias. Some patients experience chronic exercise-induced pain, fasciculations, and cramps of the feet and legs, these symptoms may also affect other members of their families.

Multiple sclerosis (MS) is often considered in the differential diagnosis. In patients with MS, pain is classified as either primary or secondary. Primary pain is related to the demyelinating process itself, and neuropathic pain is often described as "burning," "gnawing," or "shooting." Secondary pain in MS is considered musculoskeletal and possibly related to a patient's abnormal use of muscles or joints to counteract spasticity.

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