Christine Mathew, MD
Resident Physician
Burke Rehabilitation Hospital
Roslyn Heights, New York, United States
Amru Al-Rifai, MD
Resident Physician
Burke Rehabilitation Hospital
White Plains, New York, United States
Preetveer Kaur, DO
Resident Physician
Burke Rehabilitation Hospital
White Plains, New York, United States
Sirisha Tikko, MD
Attending Physician
Burke Rehabilitation Hospital
White Plains, New York, United States
Recurrent Strokes in the Setting of Fabry Disease
Case Description:
A 38-year-old Female with a past medical history of Fabry disease experienced 3 strokes over 2 months. She has no significant Fabry-related cardiac or Central nervous system manifestations and no other known risk factors for stroke. She was compliant with enzyme replacement therapy (ERT). At the acute care hospital, she presented with worsening right-sided weakness and hypertonicity, similar to her previous stroke manifestations. The workup was negative for any new acute strokes and Neurology diagnosed her with recrudescence of prior strokes. Due to her weakness and spasticity, she was admitted to an acute rehabilitation facility where she had an uncomplicated course and improved with oral Baclofen and physical therapy.
Discussions:
Fabry disease (FD) is an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). As patients with FD reach adulthood, the disease can affect major organs, including the heart and central nervous system. FD is associated with an increased risk for early-onset stroke due to vasculopathy. Given the rarity of the disease and limited research on strokes in FD, there are no established guidelines on the use of ERT for stroke prevention. While research has shown that ERT improves cerebral vasculopathy, it does not decrease the incidence of strokes. This case also highlights an interesting case of a heterozygous female with recurrent strokes.
Conclusions:
Fabry Disease is a rare genetic lysosomal storage disease known to cause early-onset stroke. Healthcare providers must be aware of the complications of this disease so that early efforts for primary and secondary stroke prevention can be initiated. Additionally, further research needs to be conducted to establish guidelines for stroke management in this population.
