Surgical treatment of a patient with erythromelalgia (Mitchell’s syndrome) using invasive spinal cord stimulation: A Clinical case

Abstract

BACKGROUND: Erythromelalgia is a rare hereditary disorder manifesting the basic triad of symptoms: erythro – redness, melos – limb, and algos – pain. It was first described by the American neurologist, S. Weir Mitchell in 1878. Clinical manifestations of the disease worsen the physical and psychological condition of the patient leading to reduced quality of life, increased morbidity and mortality. Currently, etiotropic therapy for erythromelalgia that demonstrates high efficacy in individuals with this pathology, has not been developed. Moreover, there is no consensus on treatment strategies for this category of patients, emphasized by the absence of clinical guidelines for the treatment of erythromelalgia. Treatment of patients with erythromelalgia is currently based on sequential pharmacotherapy in order to select the most effective therapy.

CLINICAL CASE: We presented the result of surgical treatment of erythromelalgia in a 15-year-old adolescent using invasive spinal cord stimulation.

DISCUSSION: Erythromelalgia remains an understudied condition with the lack of sufficient understanding of its etiology and pathogenesis. For the first time in Russia, a technique of invasive spinal cord stimulation was used in a pediatric patient with erythromelalgia, which resulted in a significant reduction of neuropathic pain, restoration of vasomotor regulation in the form of reduced edema and hyperemia.

CONCLUSIONS: In a patient with prolonged and pronounced refractory neuropathic pain caused by erythromelalgia, spinal cord stimulation was the only effective treatment technique alternative to symptomatic and drug therapy. Spinal cord stimulation should be considered as a method of treating neuropathic pain associated with pharmacoresistant forms of erythromelalgia.

Keywords

erythromelalgia / neuropathic pain / spinal cord stimulation / neuromodulation / Mitchell syndrome

References

[1] Mitchell SW. On a rare vaso-motor neurosis of the extremitiesand on the mala-dies with which it may be confounded. Am J Med Sci. 1878;76:17–36.

[2] Mitchell S.W. On a rare vaso-motor neurosis of the extremitiesand on the mala-dies with which it may be confounded // Am. J. Med. Sci. 1878. Vol. 76. P. 17–36.

[3] Mcdonnell A, Schulman B, Ali Z, et al. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. Brain. 2016;139(4):1052–1065. DOI: 10.1093/brain/aww007

[4] Mcdonnell A., Schulman B., Ali Z., et al. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile // Brain. 2016. Vol. 139. No. 4. P. 1052–1065. DOI: 10.1093/brain/aww007

[5] Estacion M, Harty TP, Choi J-S, et al. A sodium channel gene SCN9A polymorphism that increases nociceptor excitability. Ann Neurol. 2009;66(6):862–866. DOI: 10.1002/ana.21895

[6] Estacion M., Harty T.P., Choi J.-S. et al. A sodium channel gene SCN9A polymorphism that increases nociceptor excitability // Ann. Neurol. 2009. Vol. 66. No. 6. P. 862–866. DOI: 10.1002/ana.21895

[7] Diatchenko L, Slade GD, Nackley AG, et al. Genetic basis for individual variations in pain perception and the development of a chronic pain condition. Hum Mol Genet. 2004;14(1):135–143. DOI: 10.1093/hmg/ddi013

[8] Diatchenko L., Slade G.D., Nackley A.G. et al. Genetic basis for individual variations in pain perception and the development of a chronic pain condition // Hum. Mol. Genet. 2004. Vol. 14. No. 1. P. 135–143. DOI: 10.1093/hmg/ddi013

[9] Tang Z, Chen Z, Tang B, Jiang H. Primary erythromelalgia: a review. Orphanet J Rare Dis. 2015;10(1):127.

[10] Tang Z., Chen Z., Tang B., Jiang H. Primary erythromelalgia: a review // Orphanet. J. Rare Dis. 2015. Vol. 10. No. 1. P. 127.

[11] Alhadad A, Wollmer P, Svensson A, Eriksson KF. Erythromelalgia: Incidence and clinical experience in a single centre in Sweden. Vasa. 2012;41(1):43–48. DOI: 10.1024/0301-1526/a000162

[12] Alhadad A., Wollmer P., Svensson A., Eriksson K.F. Erythromelalgia: Incidence and clinical experience in a single centre in Sweden // Vasa. 2012. Vol. 41. No. 1. P. 43–48. DOI: 10.1024/0301-1526/a000162

[13] Reed KB, Davis MDP. Incidence of erythromelalgia: a populationbased study in Olmsted County, Minnesota. J Eur Ac Derm Vener. 2009;23(1):13–15.

[14] Reed K.B., Davis M.D.P. Incidence of erythromelalgia: a populationbased study in Olmsted County, Minnesota // J. Eur. Ac. Derm. Vener. 2009. Vol. 23. No. 1. P. 13–15.

[15] Smith LA, Allen EV. Erythermalgia (erythromelalgia) of the extremities. Am Heart J. 1938;16(2):175–188. DOI: 10.1016/s0002-8703(38)90693-3

[16] Smith L.A., Allen E.V. Erythermalgia (erythromelalgia) of the extremities // Am. Heart J. 1938. Vol. 16. No. 2. P. 175–188. DOI: 10.1016/s0002-8703(38)90693-3

[17] Johnson E, Iyer P, Eanes A, Zolnoun D. Erythema and burning pain in the vulva: A possible phenotype of erythromelalgia. Case Rep Med. 2011;2011(3):374167.

[18] Johnson E., Iyer P., Eanes A., Zolnoun D. Erythema and burning pain in the vulva: A possible phenotype of erythromelalgia // Case Rep. Med. 2011. Vol. 2011. No. 3. P. 374167.

[19] Messeguer F, Agusti-Mejias A, VilataCorell JJ, Requena C. Auricular erythromelalgia: report of a rare case. Dermatol Online J. 2013;19:16

[20] Messeguer F., Agusti-Mejias A., VilataCorell J.J., Requena C. Auricular erythromelalgia: report of a rare case // Dermatol. Online J. 2013. Vol. 19. P. 16

[21] Heidrich H. Functional vascular diseases: Raynaud’s syndrome, acrocyanosis and erythromelalgia. Vasa. 2010;39(1):33–41. DOI: 10.1024/0301-1526/a000003

[22] Heidrich H. Functional vascular diseases: Raynaud’s syndrome, acrocyanosis and erythromelalgia // Vasa. 2010. Vol. 39. No. 1. P. 33–41. DOI: 10.1024/0301-1526/a000003

[23] Parker LK, Ponte C, Howell KJ, et al. Clinical features and management of erythromelalgia: long-term follow-up of 46 cases. Clin Exp Rheumatol. 2017;35:80–84.

[24] Parker L.K., Ponte C., Howell K.J. et al. Clinical features and management of erythromelalgia: long-term follow-up of 46 cases // Clin. Exp. Rheumatol. 2017. Vol. 35. P. 80–84.

[25] Davis MDP. Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia. J Am Acad Dermatol. 2013;69(1):169–171.

[26] Davis M.D.P. Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia // J. Am. Acad. Dermatol. 2013. Vol. 69. No. 1. P. 169–171.

[27] Kirby RL. Erythromelalgia-notsobenign. Arch Phys Med Rehabil. 1987;68:389.

[28] Kirby R.L. Erythromelalgia-notsobenign // Arch. Phys. Med. Rehabil. 1987. Vol. 68. P. 389.

[29] Tamrazova OB, Molochkov AV, Koren’kova OV, Novikov KA. Angiotrofonevrozy. Eritromelalgiya u 11-letnego rebenka. Al’manakh klinicheskoy meditsiny. 2016;44(1):52–57. (In Russ.). DOI: 10.18786/2072-0505-2016-44-1-52-57

[30] Тамразова О.Б., Молочков А.В., Коренькова О.В., Новиков К.А. Ангиотрофоневрозы. Эритромелалгия у 11-летнего ребенка // Альманах клинической медицины. 2016. Т. 44. № 1. С. 52–57. DOI: 10.18786/2072-0505-2016-44-1-52-57

[31] Chan MKH, Tucker AT, Madden S, et al. Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. Arch Dis Child. 2002;87(3):229–230.

[32] Chan M.K.H., Tucker A.T., Madden S. et al. Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside // Arch. Dis. Child. 2002. Vol. 87. No. 3. P. 229–230.

[33] Zsoylu S, Coskun T. Sodium nitroprusside treatment in erythromelalgia. Eur J Pediatr. 1984;141(3):185–187.

[34] Zsoylu S., Coskun T. Sodium nitroprusside treatment in erythromelalgia // Eur. J. Pediatr. 1984. Vol. 141. No. 3. P. 185–187.

[35] Friberg D, Chen T, Tarr G, van Rij A. Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. Int J Vasc Med. 2013;2013(2):864961.

[36] Friberg D., Chen T., Tarr G., van Rij A. Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community // Int. J. Vasc. Med. 2013. Vol. 2013. No. 2. P. 864961.

[37] Toriya VG, Savina MV, Vissarionov SV, Baindurashvili AG. Nasledstvennaya eritromelalgiya u podrostka. Klinicheskoye nablyudeniye redkogo zabolevaniya. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2022;10(1):85–92. DOI: 10.17816/PTORS90396

[38] Тория В.Г., Савина М.В., Виссарионов С.В., Баиндурашвили А.Г. Наследственная эритромелалгия у подростка. Клиническое наблюдение редкого заболевания // Ортопедия, травматология и восстановительная хирургия детского возраста. 2022. Т. 10. № 1. С. 85–92. DOI: 10.17816/PTORS90396

[39] Tham SW, Giles M. Current Pain management strategies for patients with erythromelalgia: a critical review. J Pain Res. 2018;30(11):1689–1698. DOI: 10.2147/JPR.S154462

[40] Tham S.W., Giles M. Current Pain management strategies for patients with erythromelalgia: a critical review // J. Pain Res. 2018. Vol. 30. No. 11. P. 1689–1698. DOI: 10.2147/JPR.S154462

[41] Graziotti PJ, Goucke CR. Control of intractable pain in erythromelalgia by using spinal cord stimulation. J Pain Symp Manag. 1993;8(7):502–504. DOI: 10.1016/0885-3924(93)90194-z

[42] Graziotti P.J., Goucke C.R. Control of intractable pain in erythromelalgia by using spinal cord stimulation // J. Pain Symp. Manag. 1993. Vol. 8. No. 7. P. 502–504. DOI: 10.1016/0885-3924(93)90194-z

[43] Matzke LL, Lamer TJ, Gazelka HM. Spinal cord stimulation for treatment of neuropathic pain associated with erythromelalgia. JAPM. 2016;41(5):619–620. DOI: 10.1097/aap.0000000000000457

[44] Matzke L.L., Lamer T.J., Gazelka H.M. Spinal cord stimulation for treatment of neuropathic pain associated with erythromelalgia // RAPM. 2016. Vol. 41. No. 5. P. 619–620. DOI: 10.1097/aap.0000000000000457

[45] Chakravarthy K, Malayil R, Kirketeig T, Deer T. Burst spinal cord stimulation: A systematic review and pooled analysis of real-world evidence and outcomes data. Pain Medicine. 2019;20:S47–S57. DOI: 10.1093/pm/pnz046

[46] Chakravarthy K., Malayil R., Kirketeig T., Deer T. Burst spinal cord stimulation: A systematic review and pooled analysis of real-world evidence and outcomes data // Pain Medicine. 2019. Vol. 20. P. S47–S57. DOI: 10.1093/pm/pnz046

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Toriya V.G., Vissarionov S.V., Savina M.V., Baindurashvili A.G.