Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain.
10.3344/kjp.2010.23.3.207
- Author:
Ki Bum PARK
1
;
Kyung Ream HAN
;
Jae Woo LEE
;
Seung Ho KIM
;
Do Wan KIM
;
Chan KIM
;
Jung Min KO
Author Information
1. Department of Anesthesiology and Pain Medicine, College of Medicine, Yeungnam University, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
acroparesthesia;
agalsidase beta;
anhidrosis;
fabry disease
- MeSH:
alpha-Galactosidase;
Analgesics;
Burns;
Disease Progression;
Early Diagnosis;
Enzyme Replacement Therapy;
Fabry Disease;
Foot;
Humans;
Hypohidrosis;
Isoenzymes;
Mass Screening;
Pain Clinics;
Pain Management;
Toes
- From:The Korean Journal of Pain
2010;23(3):207-210
- CountryRepublic of Korea
- Language:English
-
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.
