게시판
| 21KS-026 |
Fabry’s disease mimicking fibromyalgia : a Case Report
Department
of Anesthesiology and Pain Medicine, Seoul National University Bundang
Hospital, Seongnam, Korea.
Introduction
Fabry disease is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient lysosomal α-galactosidase A activity. Homozygous males may display all the characteristic neurological, cutaneous, renal, cardiovascular, cerebrovascular signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that genotyping of females is mandatory. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively. Long-term enzyme therapy can halt disease progression
Case report
A 37-year-old female patient visited our pain center complaining of multiple generalized pain in her both elbow, ankle, upper back, posterior thigh. She said she was diagnosed with fibromyalgia eight years ago in local clinic and the pain had worsened since the car accident in three weeks ago. She was taking tramadol, pregabalin for pain control and other medications for bipolar disorder. Pain nature was stationary burning sensation at each site and aggravated by emotional stress, waking up in the morning. Pain intensity was usually NRS 6-8 but 10 at the time of deterioration. Her blood test result was in normal range but anemia(Hgb 8.7). We suspected fibromyalgia based on FIQ (total 74.04 WPI 11 SS 12) and prescribed pregabalin and tramadol. Fortunately, We could provide the enzyme analysis about fabry disease for free and proceeded cardiology consultation, simultaneously. Her α-galactosidase A deficiency was confirmed and test for heart problem(EKG, pro-BNP, echocardiography) was in normal range. We proceeded genotyping through buccal swab, blood test and it was positive. We explained the results to her and are planning to provide enzyme therapy after enrollment in rare-disease center
Conclusion
Fabry disease can display neuropathic pain and other life-threatening manifestations. It can mimic other chronic pain conditions, like as fibromyalgia. After Confirmed by enzyme analysis, enzyme replacement therapy can halt disease progression.
Reference
1. Fabry disease; Dominique P Germain; Orphanet Journal of Rare Diseases volume 5, Article number: 30 (2010)
Fabry disease is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient lysosomal α-galactosidase A activity. Homozygous males may display all the characteristic neurological, cutaneous, renal, cardiovascular, cerebrovascular signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that genotyping of females is mandatory. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively. Long-term enzyme therapy can halt disease progression
Case report
A 37-year-old female patient visited our pain center complaining of multiple generalized pain in her both elbow, ankle, upper back, posterior thigh. She said she was diagnosed with fibromyalgia eight years ago in local clinic and the pain had worsened since the car accident in three weeks ago. She was taking tramadol, pregabalin for pain control and other medications for bipolar disorder. Pain nature was stationary burning sensation at each site and aggravated by emotional stress, waking up in the morning. Pain intensity was usually NRS 6-8 but 10 at the time of deterioration. Her blood test result was in normal range but anemia(Hgb 8.7). We suspected fibromyalgia based on FIQ (total 74.04 WPI 11 SS 12) and prescribed pregabalin and tramadol. Fortunately, We could provide the enzyme analysis about fabry disease for free and proceeded cardiology consultation, simultaneously. Her α-galactosidase A deficiency was confirmed and test for heart problem(EKG, pro-BNP, echocardiography) was in normal range. We proceeded genotyping through buccal swab, blood test and it was positive. We explained the results to her and are planning to provide enzyme therapy after enrollment in rare-disease center
Conclusion
Fabry disease can display neuropathic pain and other life-threatening manifestations. It can mimic other chronic pain conditions, like as fibromyalgia. After Confirmed by enzyme analysis, enzyme replacement therapy can halt disease progression.
Reference
1. Fabry disease; Dominique P Germain; Orphanet Journal of Rare Diseases volume 5, Article number: 30 (2010)