Early diagnosis of fabry disease in a patient with toe tip pain.
Fabry disease is an X-linked lysosomal disease caused by deficiency of α-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 α-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.
Park
Ki Bum
KB
Department of Anesthesiology and Pain Medicine, College of Medicine, Yeungnam University, Daegu, Korea.
Han
Kyung Ream
KR
Lee
Jae Woo
JW
Kim
Seung Ho
SH
Kim
Do Wan
DW
Kim
Chan
C
Ko
Jung Min
JM