Клинический случай эритромелалгии у коморбидной пациентки с антифосфолипидным синдромом - Журнал Терапевтический архив №12 Vario 2025

Клинический случай эритромелалгии у коморбидной пациентки с антифосфолипидным синдромом

Кудрявцева А.А., Меладзе А.В., Трапезникова Е.С., Левшина А.Р., Напалков Д.А., Соколова А.А. Клинический случай эритромелалгии у коморбидной пациентки с антифосфолипидным синдромом. Терапевтический архив. 2025;97(12):1018–1022. DOI: 10.26442/00403660.2025.12.203468

© ООО «КОНСИЛИУМ МЕДИКУМ», 2025 г.

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Kudrjavtseva AA, Meladze AV, Trapeznikova ES, Levshina AR, Napalkov DA, Sokolova AA. A clinical case of erythromelalgia in a patient comorbid with antiphospholipid syndrome. Terapevticheskii Arkhiv (Ter. Arkh.). 2025;97(12):1018–1022. DOI: 10.26442/00403660.2025.12.203468

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Аннотация

В статье представлен клинический случай вторичной эритромелалгии у коморбидной пациентки с антифосфолипидным синдромом, сопровождающейся жгучей болью, гиперемией и отеком нижних конечностей. Представлено комплексное обследование пациентки с привлечением невролога, дерматолога и ревматолога для установки диагноза и подбора оптимальной терапии. Продемонстрировано значимое клиническое улучшение состояния пациентки на фоне терапии прегабалином. Подчеркивается важность мультидисциплинарного подхода и трудность диагностики, обусловленные отсутствием специфических методов обследования и недостаточной осведомленностью врачей о таком заболевании. Описанный случай демонстрирует необходимость персонализированного подхода к ведению пациентов с эритромелалгией для улучшения качества их жизни.

Ключевые слова: эритромелалгия, антифосфолипидный синдром, синдром Митчелла, акроцианоз, жгучая боль, мутации в гене SCN9A, натриевые каналы Nav1.7, коморбидный пациент, клинический случай

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The article presents a clinical case of secondary erythromelalgia in a comorbid patient with antiphospholipid syndrome, accompanied by burning pain, hyperemia and swelling of the lower extremities. A comprehensive examination involving a neurologist, dermatologist, and rheumatologist was conducted to establish the diagnosis and select the optimal therapy. Significant clinical improvement in the patient's condition is demonstrated against the background of pregabalin therapy. The importance of a multidisciplinary approach and the difficulty of diagnosis due to the lack of specific examination methods and insufficient awareness of doctors about this disease are emphasized. The described case demonstrates the need for a personalized approach to managing patients with erythromelalgia to improve their quality of life.

Keywords: erythromelalgia, antiphospholipid syndrome, Mitchell syndrome, acrocyanosis, burning pain, SCN9A gene mutations, Nav1.7 sodium channels, comorbid patient, clinical case

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Список литературы

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2. Davis MD, O’Fallon WM, Rogers RS 3rd, Rooke TW. Natural History of Erythromelalgia: Presentation and Outcome in 168 Patients. Arch Dermatol. 2000;136(3):330-6. DOI:10.1001/archderm.136.3.330
3. Davis MD. Facial erythromelalgia? J Am Acad Dermatol. 2018;78(5):e127. DOI:10.1016/j.jaad.2017.10.056
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11. Buttaci CJ. Erythromelalgia: A Case Report and Literature Review. Pain Med. 2006;7(6):534-8. DOI:10.1111/j.1526-4637.2006.00240.x
12. Kurzrock R, Cohen PR. Erythromelalgia: Review of clinical characteristics and pathophysiology. Am J Med. 1991;91(4):416-22. DOI:10.1016/0002-9343(91)90160-y
13. Davis MD, Wilkins F, Rooke TW. Between Episodes of Erythromelalgia: A Spectrum of Colors. Arch Dermatol. 2006;142(8):1065. DOI:10.1001/archderm.142.8.1085
14. Asigo G, Parry SJ. Mental health and social sequelae of a rare condition: erythromelalgia. Prog Neurol Psychiatry. 2023;27(2):21-3. DOI:10.1002/pnp.788
15. Fan H, Yu W, Zhang Q, et al. Efficacy and safety of gabapentin 1800 mg treatment for post-herpetic neuralgia: a meta-analysis of randomized controlled trials. J Clin Pharm Ther. 2014;39(4):334-42. DOI:10.1111/jcpt.12167
16. Kanbay M, Kaya A, Bozalan R, et al. Gabapentin Induced Edema in A Geriatric Patient. Clin Neuropharmacol. 2006;29(3):186. DOI:10.1097/01.WNF.0000204279.09291.AC
17. Kahlon A, Gnanabakthan N, Dhillon A, Subedi D. A rare case of bilateral lower extremity edema due to low dose gabapentin therapy in a young male patient. J Basic Clin Pharm. 2015;6(4):117. DOI:10.4103/0976-0105.168053
18. Moore RA, Wiffen PJ, Derry S, McQuay HJ. Gabapentin for chronic neuropathic pain in adults. Cochrane Database Syst Rev. 2011;(3):CD007938. DOI:10.1002/14651858.CD007938.pub2
19. Wallace MS, Irving G, Cowles VE. Gabapentin Extended-Release Tablets for the Treatment of Patients with Postherpetic Neuralgia: A Randomized, Double-Blind, Placebo-Controlled, Multicentre Study. Clin Drug Investig. 2010;30(11):765-76. DOI:10.2165/11539520-000000000-00000
20. Parsons B, Tive L, Huang S. Gabapentin: a pooled analysis of adverse events from three clinical trials in patients with postherpetic neuralgia. Am J Geriatr Pharmacother. 2004;2(3):157-62. DOI:10.1016/j.amjopharm.2004.09.004
21. Bidaki R, Sadeghi Z, Shafizadegan S, et al. Gabapentin induces edema, hyperesthesia and scaling in a depressed patient; a diagnostic challenge. Adv Biomed Res. 2016;5:1. DOI:10.4103/2277-9175.174955
22. Hou JL, Onajin O, Gangat N, et al. Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. Leuk Lymphoma. 2017;58(3):715-7. DOI:10.1080/10428194.2016.1205740
23. Cummins TR, Dib-Hajj SD, Waxman SG. Electrophysiological Properties of Mutant Nav 1.7 Sodium Channels in a Painful Inherited Neuropathy. J Neurosci. 2004;24(38):8232-6. DOI:10.1523/JNEUROSCI.2695-04.2004
24. 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(Pt. 4):1052-65. DOI:10.1093/brain/aww007
25. Davis MD, Weenig RH, Genebriera J, et al. Histopathologic findings in primary erythromelalgia are nonspecific: Special studies show a decrease in small nerve fiber density. J Am Acad Dermatol. 2006;55(3):519-22. DOI:10.1016/j.jaad.2006.04.067
26. Kalgaard OM, Clausen OP, Mellbye OJ, et al. Nonspecific Capillary Proliferation and Vasculopathy Indicate Skin Hypoxia in Erythromelalgia. Arch Dermatol. 2011;147(3):309-14. DOI:10.1001/archdermatol.2010.337
27. Clarke JTR. Narrative Review: Fabry Disease. Ann Intern Med. 2007;146(6):425-33. DOI:10.7326/0003-4819-146-6-200703200-00007
28. Skeik N, Rooke TW, Davis MD, et al. Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation. Vasc Med. 2012;17(1):44-9. DOI:10.1177/1358863X11422584
29. Davis MD. 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):169-71. DOI:10.1016/j.jaad.2013.02.021
30. Davis MD, Sandroni P. Lidocaine Patch for Pain of Erythromelalgia. Arch Dermatol. 2002;138(1):17-9. DOI:10.1001/archderm.138.1.17
31. Gales A, Chaaban B, Husson H, et al. Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. Rev Neurol (Paris). 2016;172(6–7):399-400. DOI:10.1016/j.neurol.2016.03.004
32. Sandroni P, Davis MD. Combination Gel of 1% Amitriptyline and 0.5% Ketamine to Treat Refractory Erythromelalgia Pain: A New Treatment Option? Arch Dermatol. 2006;142(3):283-6. DOI:10.1001/archderm.142.3.283
33. Poterucha TJ, Weiss WT, Warndahl RA, et al. Topical amitriptyline combined with ketamine for the treatment of erythromelalgia: a retrospective study of 36 patients at Mayo Clinic. J Drugs Dermatol. 2013;12(3):308-10.
34. Muhiddin KA, Gallen IW, Harries S, Pearce VR. The use of capsaicin cream in a case of erythromelalgia. Postgrad Med J. 1994;70(829):841-3. DOI:10.1136/pgmj.70.829.841
35. Kurzrock R, Cohen PR. Erythromelalgia and myeloproliferative disorders. Arch Intern Med. 1989;149(1):105-9.
36. Krishnan SG, Yesudian DP, Jayaraman M, et al. Erythromelalgia responding to aspirin. Indian J Dermatol Venereol Leprol. 1996;62(3):204-5.
37. McGraw T, Kosek P. Erythromelalgia Pain Managed with Gabapentin. Anesthesiology. 1997;86(4):988-90. DOI:10.1097/00000542-199704000-00029
38. Natkunarajah J, Atherton D, Elmslie F, et al. Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. Clin Exp Dermatol. 2009;34(8):640-2. DOI:10.1111/j.1365-2230.2009.03355.x
39. Kalava K, Roberts C, Adair JD, Raman V. Response of Primary Erythromelalgia to Pregabalin Therapy. J Clin Rheumatol. 2013;19(5):284-5. DOI:10.1097/RHU.0b013e31829cf8a2
40. Kakizaki A, Fujimura T, Kambayashi Y, et al. Successful Treatment of Adult-Onset Erythromelalgia with Steroid Pulse and Pregabalin. Case Rep Dermatol. 2012;4(3):242-6. DOI:10.1159/000345377
41. DiCaudo DJ, Kelley LA. Alleviation of erythromelalgia with venlafaxine. Arch Dermatol. 2004;140(5):621-3. DOI:10.1001/archderm.140.5.621
42. Herskovitz S, Loh F, Berger AR, Kucherov M. Erythromelalgia: Association with hereditary sensory neuropathy and response to amitriptyline. Neurology. 1993;43(3 Pt. 1):621-2. DOI:10.1212/WNL.43.3_Part_1.621
43. Pagani-Estevez GL, Sandroni P, Davis MD, Watson JC. Erythromelalgia: Identification of a corticosteroid-responsive subset. J Am Acad Dermatol. 2017;76(3):506-11. DOI:10.1016/j.jaad.2016.08.048
44. Durosaro O, Davis MD, Hooten WM, Kerkvliet JL. Intervention for Erythromelalgia, a Chronic Pain Syndrome: Comprehensive Pain Rehabilitation Center, Mayo Clinic. Arch Dermatol. 2008;144(12):1578-83. DOI:10.1001/archdermatol.2008.515

________________________________________________

1. Tang Z, Chen Z, Tang B, Jiang H. Primary erythromelalgia: a review. Orphanet J Rare Dis. 2015;10(1):127. DOI:10.1186/s13023-015-0347-1
2. Davis MD, O’Fallon WM, Rogers RS 3rd, Rooke TW. Natural History of Erythromelalgia: Presentation and Outcome in 168 Patients. Arch Dermatol. 2000;136(3):330-6. DOI:10.1001/archderm.136.3.330
3. Davis MD. Facial erythromelalgia? J Am Acad Dermatol. 2018;78(5):e127. DOI:10.1016/j.jaad.2017.10.056
4. Rovensky J, Payer J. Erythromelalgia: Dictionary of Rheumatology. Springer Vienna. 2009;62. DOI:10.1007/978-3-211-79280-3_348
5. Dib-Hajj SD, Rush AM, Cummins TR, et al. Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005;128(Pt. 8):1847-54. DOI:10.1093/brain/awh514
6. Mann N, King T, Murphy R. Review of primary and secondary erythromelalgia. Clin Exp Dermatol. 2019;44(5):477-82. DOI:10.1111/ced.13891
7. Cohen JS. Erythromelalgia: New theories and new therapies. J Am Acad Dermatol. 2000;43(5 Pt. 1):841-7. DOI:10.1067/mjd.2000.109301
8. Farrar MA, Lee MJ, Howells J, et al. Burning pain: axonal dysfunction in erythromelalgia. Pain. 2017;158(5):900-11. DOI:10.1097/j.pain.0000000000000856
9. Meents JE, Bressan E, Sontag S, et al. The role of Nav1.7 in human nociceptors: insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients. Pain. 2019;160(6):1327-41. DOI:10.1097/j.pain.0000000000001511
10. Nasonov E, Reshetnyak T, Solovyev S, Popkova Т. Systemic lupus erythematosus and antiphospholipid syndrome: past, present, future. Terapevticheskii Arkhiv (Ter. Arkh.). 2023;95(5):365-74 (in Russian). DOI:10.26442/00403660.2023.05.202246
11. Buttaci CJ. Erythromelalgia: A Case Report and Literature Review. Pain Med. 2006;7(6):534-8. DOI:10.1111/j.1526-4637.2006.00240.x
12. Kurzrock R, Cohen PR. Erythromelalgia: Review of clinical characteristics and pathophysiology. Am J Med. 1991;91(4):416-22. DOI:10.1016/0002-9343(91)90160-y
13. Davis MD, Wilkins F, Rooke TW. Between Episodes of Erythromelalgia: A Spectrum of Colors. Arch Dermatol. 2006;142(8):1065. DOI:10.1001/archderm.142.8.1085
14. Asigo G, Parry SJ. Mental health and social sequelae of a rare condition: erythromelalgia. Prog Neurol Psychiatry. 2023;27(2):21-3. DOI:10.1002/pnp.788
15. Fan H, Yu W, Zhang Q, et al. Efficacy and safety of gabapentin 1800 mg treatment for post-herpetic neuralgia: a meta-analysis of randomized controlled trials. J Clin Pharm Ther. 2014;39(4):334-42. DOI:10.1111/jcpt.12167
16. Kanbay M, Kaya A, Bozalan R, et al. Gabapentin Induced Edema in A Geriatric Patient. Clin Neuropharmacol. 2006;29(3):186. DOI:10.1097/01.WNF.0000204279.09291.AC
17. Kahlon A, Gnanabakthan N, Dhillon A, Subedi D. A rare case of bilateral lower extremity edema due to low dose gabapentin therapy in a young male patient. J Basic Clin Pharm. 2015;6(4):117. DOI:10.4103/0976-0105.168053
18. Moore RA, Wiffen PJ, Derry S, McQuay HJ. Gabapentin for chronic neuropathic pain in adults. Cochrane Database Syst Rev. 2011;(3):CD007938. DOI:10.1002/14651858.CD007938.pub2
19. Wallace MS, Irving G, Cowles VE. Gabapentin Extended-Release Tablets for the Treatment of Patients with Postherpetic Neuralgia: A Randomized, Double-Blind, Placebo-Controlled, Multicentre Study. Clin Drug Investig. 2010;30(11):765-76. DOI:10.2165/11539520-000000000-00000
20. Parsons B, Tive L, Huang S. Gabapentin: a pooled analysis of adverse events from three clinical trials in patients with postherpetic neuralgia. Am J Geriatr Pharmacother. 2004;2(3):157-62. DOI:10.1016/j.amjopharm.2004.09.004
21. Bidaki R, Sadeghi Z, Shafizadegan S, et al. Gabapentin induces edema, hyperesthesia and scaling in a depressed patient; a diagnostic challenge. Adv Biomed Res. 2016;5:1. DOI:10.4103/2277-9175.174955
22. Hou JL, Onajin O, Gangat N, et al. Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. Leuk Lymphoma. 2017;58(3):715-7. DOI:10.1080/10428194.2016.1205740
23. Cummins TR, Dib-Hajj SD, Waxman SG. Electrophysiological Properties of Mutant Nav 1.7 Sodium Channels in a Painful Inherited Neuropathy. J Neurosci. 2004;24(38):8232-6. DOI:10.1523/JNEUROSCI.2695-04.2004
24. 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(Pt. 4):1052-65. DOI:10.1093/brain/aww007
25. Davis MD, Weenig RH, Genebriera J, et al. Histopathologic findings in primary erythromelalgia are nonspecific: Special studies show a decrease in small nerve fiber density. J Am Acad Dermatol. 2006;55(3):519-22. DOI:10.1016/j.jaad.2006.04.067
26. Kalgaard OM, Clausen OP, Mellbye OJ, et al. Nonspecific Capillary Proliferation and Vasculopathy Indicate Skin Hypoxia in Erythromelalgia. Arch Dermatol. 2011;147(3):309-14. DOI:10.1001/archdermatol.2010.337
27. Clarke JTR. Narrative Review: Fabry Disease. Ann Intern Med. 2007;146(6):425-33. DOI:10.7326/0003-4819-146-6-200703200-00007
28. Skeik N, Rooke TW, Davis MD, et al. Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation. Vasc Med. 2012;17(1):44-9. DOI:10.1177/1358863X11422584
29. Davis MD. 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):169-71. DOI:10.1016/j.jaad.2013.02.021
30. Davis MD, Sandroni P. Lidocaine Patch for Pain of Erythromelalgia. Arch Dermatol. 2002;138(1):17-9. DOI:10.1001/archderm.138.1.17
31. Gales A, Chaaban B, Husson H, et al. Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. Rev Neurol (Paris). 2016;172(6–7):399-400. DOI:10.1016/j.neurol.2016.03.004
32. Sandroni P, Davis MD. Combination Gel of 1% Amitriptyline and 0.5% Ketamine to Treat Refractory Erythromelalgia Pain: A New Treatment Option? Arch Dermatol. 2006;142(3):283-6. DOI:10.1001/archderm.142.3.283
33. Poterucha TJ, Weiss WT, Warndahl RA, et al. Topical amitriptyline combined with ketamine for the treatment of erythromelalgia: a retrospective study of 36 patients at Mayo Clinic. J Drugs Dermatol. 2013;12(3):308-10.
34. Muhiddin KA, Gallen IW, Harries S, Pearce VR. The use of capsaicin cream in a case of erythromelalgia. Postgrad Med J. 1994;70(829):841-3. DOI:10.1136/pgmj.70.829.841
35. Kurzrock R, Cohen PR. Erythromelalgia and myeloproliferative disorders. Arch Intern Med. 1989;149(1):105-9.
36. Krishnan SG, Yesudian DP, Jayaraman M, et al. Erythromelalgia responding to aspirin. Indian J Dermatol Venereol Leprol. 1996;62(3):204-5.
37. McGraw T, Kosek P. Erythromelalgia Pain Managed with Gabapentin. Anesthesiology. 1997;86(4):988-90. DOI:10.1097/00000542-199704000-00029
38. Natkunarajah J, Atherton D, Elmslie F, et al. Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. Clin Exp Dermatol. 2009;34(8):640-2. DOI:10.1111/j.1365-2230.2009.03355.x
39. Kalava K, Roberts C, Adair JD, Raman V. Response of Primary Erythromelalgia to Pregabalin Therapy. J Clin Rheumatol. 2013;19(5):284-5. DOI:10.1097/RHU.0b013e31829cf8a2
40. Kakizaki A, Fujimura T, Kambayashi Y, et al. Successful Treatment of Adult-Onset Erythromelalgia with Steroid Pulse and Pregabalin. Case Rep Dermatol. 2012;4(3):242-6. DOI:10.1159/000345377
41. DiCaudo DJ, Kelley LA. Alleviation of erythromelalgia with venlafaxine. Arch Dermatol. 2004;140(5):621-3. DOI:10.1001/archderm.140.5.621
42. Herskovitz S, Loh F, Berger AR, Kucherov M. Erythromelalgia: Association with hereditary sensory neuropathy and response to amitriptyline. Neurology. 1993;43(3 Pt. 1):621-2. DOI:10.1212/WNL.43.3_Part_1.621
43. Pagani-Estevez GL, Sandroni P, Davis MD, Watson JC. Erythromelalgia: Identification of a corticosteroid-responsive subset. J Am Acad Dermatol. 2017;76(3):506-11. DOI:10.1016/j.jaad.2016.08.048
44. Durosaro O, Davis MD, Hooten WM, Kerkvliet JL. Intervention for Erythromelalgia, a Chronic Pain Syndrome: Comprehensive Pain Rehabilitation Center, Mayo Clinic. Arch Dermatol. 2008;144(12):1578-83. DOI:10.1001/archdermatol.2008.515

Авторы

А.А. Кудрявцева*¹, А.В. Меладзе¹, Е.С. Трапезникова¹, А.Р. Левшина², Д.А. Напалков¹, А.А. Соколова¹

¹ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия;
²ФГБУ «Национальный медицинский исследовательский центр терапии и профилактической медицины» Минздрава России, Москва, Россия
*Ankudr@bk.ru

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Anna A. Kudrjavtseva*¹, Arina V. Meladze¹, Ekaterina S. Trapeznikova¹, Anna R. Levshina², Dmitry A. Napalkov¹, Anastasiya A. Sokolova¹

¹Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia;
²National Medical Research Centre for Therapy and Preventive Medicine, Moscow, Russia
*Ankudr@bk.ru

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