2023 FSA Podium and Poster Abstracts

P069: FABRY DISEASE: A CASE REPORT OF PAIN UNRESPONSIVE TO TRAMADOL BUT SUBSEQUENTLY RESPONSIVE TO GABAPENTIN AND DULOXETINE
Jacob Topfer, DO; Danielle Horn; Melvin C Gitlin; University of Miami, Department of Anesthesiology, Perioperative Medicine and Pain Management

Introduction: Fabry Disease is a rare X-linked lysosomal storage disorder due to mutations in the gene encoding the enzyme alpha-galactosidase A. Glycosphingolipid deposition in the lysosomes may result in a variety of pathological processes. Renal, cardiac, and brain pathology may eventuate, however diagnosis and treatment can be challenging due to the nonspecific nature of symptoms (1). Neuropathic pain, often manifesting in childhood or early adulthood, occurs and may be a significant component. We report a case of Fabry Disease associated pain which was unresponsive to the opioid tramadol but was responsive to subsequent treatment with gabapentin and duloxetine.

Case Report: A 30 year old female was seen in consultation for paresthesias, dysesthesias, formication, and hypesthesia of the extremities which became prominent in her late twenties. She had experienced diffuse pain throughout the body compatible with the diagnosis of neuropathic pain. She had first experienced joint dislocations, subluxations, diffuse muscle pain, and joint hyperflexibilty in her mid-teenage years. Cardiovascular, GI, and nephrogenic problems subsequently developed. Genetic testing was performed and identified a pathogenic variant in the GLA gene consistent with the diagnosis of Fabry Disease. The patient had been treated for her pain complaints for several years prior to presentation unsuccessfully with tramadol. An analgesic program of upward titration of gabapentin and duloxetine was instituted instead of the previously prescribed opioid and she reported analgesic efficacy without adverse medication side effects. With her current regimen of a daily dose of 800 mg of gabapentin and 40 mg of duloxetine she continues to report significant relief of her neuropathic pain symptomatology.

Discussion: Neuropathic pain may be a prominent problematic feature of Fabry Disease. This may manifest early in the course of the disease (1). Recurrent pain crises may begin in the distal extremities and then radiate proximally. Fabry Disease registries have demonstrated neuropathic pain involvement in 60 to 80 percent of young male and 40 to 60 percent of young female affected patients (2). Neuropathic pain has been attributed to small fiber neuropathy resulting from glycoprotein accumulation in the dorsal root ganglia or vascular endothelial cells. Among pharmacologic proposed treatments are the utilization of gabapentin, pregabalin, duloxetine, venlafaxine, and carbamazepine (3). Enzyme replacement therapies have also been suggested as being efficacious.

Conclusion: We report a case of a patient with genetic laboratory confirmed Fabry Disease with prominent neuropathic pain unresponsive to tramadol who has been successfully treated with resultant significant pain relief with gabapentin and duloxetine for over two years. Continuing research will hopefully better guide the treatment of this progressive disorder.