Korean J Pain.  2010 Sep;23(3):207-210. 10.3344/kjp.2010.23.3.207.

Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

• Park KB
• Han KR
• Lee JW
• Kim SH
• Kim DW
• Kim C
• Ko JM

• KMID: 1767885
• DOI: http://doi.org/10.3344/kjp.2010.23.3.207

Abstract

Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent alpha-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.

Keyword

acroparesthesia; agalsidase beta; anhidrosis; fabry disease

MeSH Terms

alpha-Galactosidase
Analgesics
Burns
Disease Progression
Early Diagnosis
Enzyme Replacement Therapy
Fabry Disease
Foot
Humans
Hypohidrosis
Isoenzymes
Mass Screening
Pain Clinics
Pain Management
Toes
Analgesics
Isoenzymes
alpha-Galactosidase

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