July 16, 2015: Acroparesthesia in Fabry Disease

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July 16, 2015

Acroparesthesia in Fabry Disease

Fabry disease is an X-linked inborn error of the glycosphingolipid metabolic pathway and is the second most prevalent lysosomal storage disorder after Gaucher diseases. It involves a deficiency in the enzyme alpha galactosidase A resulting in accumulation of the glycolipid globotriaosylceramid (Gb3). Clinical manifestations begin in childhood and include severe acroparesthesias, defined as painful numbness, burning and tingling involving the extremities. This pain is thought to be caused by disruption of the vascular supply to small pain fibers. Acroparesthesias may be precipitated by stress, extremes of heat or cold, and physical exertion.

The majority of patients will also have early skin manifestations of the disease including telangiectasias and angiokeratomas as well as renal involvement. Cerebrovascular involvement secondary to vasculopathy and arteriopathy may lead to transient ischemic attacks and strokes in young adulthood. Cardiac manifestations are also common at this age. It is critical to recognize the typical, recurring pain in childhood as one of the most common initial manifestations of Fabry disease as this will aid in early diagnosis and improve further management of these patients.


  1. Marchesoni CL, Roa N, Pardal AM, et al. Misdiagnosis in Fabry disease. Journal of Pediatrics 2010; 156: 828-831.

Submitted by Anna Mrelashvili, MD, Resident Physician, Department of Pediatric Neurology, Mayo Clinic, Rochester, MN.

Disclosures: Dr. Mrelashvili reports no disclosures.

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