Journal of Electrodiagnosis and Neuromuscular Diseases (대한근전도전기진단의학회지)

Korean Association of EMG Electrodiagnostic Medicine (대한근전도전기진단의학회)
권호 표지
DOI QR코드

DOI QR Code

Diagnosis of Small Fiber Neuropathy: Usefulness of Skin Biopsy

소섬유신경병증의 진단: 피부생검의 유용성

  • Kim, Sooyoung (Department of Neurology, Chungnam National University Hospital) ;
  • Sohn, Eun Hee (Department of Neurology, Chungnam National University Hospital)
  • 김수영 (충남대학교병원 신경과) ;
  • 손은희 (충남대학교병원 신경과)
  • Received : 2018.05.19
  • Accepted : 2018.08.14
  • Published : 2018.12.31
⟨ Previous Next ⟩

Abstract

Small fiber neuropathy (SFN) mainly affects thinly myelinated $A{\delta}$-fibers and unmyelinated C-fibers presented with neuropathic pain like burning feet or numbness. Many conditions are known as a causes of SFN, metabolic derangement, especially glucose intolerance, is the most frequent cause of SFN. It has been hard to diagnose SFN because there has been lack of specialized test for small nerve fiber. Quantification of intraepidermal nerve fiber density using skin biopsy is promising method to diagnose SFN. A skin biopsy also could give helps to research pathophysiology of SFN by specialized stain method.

Keywords

References

  1. Themistocleous AC, Ramirez JD, Serra J, Bennett DL: The clinical approach to small fibre neuropathy and painful channelopathy. Practical neurology 2014: 14: 368-379 https://doi.org/10.1136/practneurol-2013-000758
  2. Dyck PJ: Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands. Neurology 2014: 82: 1385 https://doi.org/10.1212/01.wnl.0000446502.87636.91
  3. Terkelsen AJ, Karlsson P, Lauria G, Freeman R, Finnerup NB, Jensen TS: The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes. The Lancet Neurology 2017: 16: 934-944 https://doi.org/10.1016/S1474-4422(17)30329-0
  4. Sohn EH, Song KS, Lee JY, Lee AY: Comparison of Somatic and Sudomotor Nerve Fibers in Type 2 Diabetes Mellitus. Journal of clinical neurology (Seoul, Korea) 2017: 13: 366-370 https://doi.org/10.3988/jcn.2017.13.4.366
  5. Thaisetthawatkul P, Fernandes Filho JA, Herrmann DN: Autonomic evaluation is independent of somatic evaluation for small fiber neuropathy. Journal of the neurological sciences 2014: 344: 51-54 https://doi.org/10.1016/j.jns.2014.06.017
  6. Brenaut E, Marcorelles P, Genestet S, Menard D, Misery L: Pruritus: an underrecognized symptom of small-fiber neuropathies. Journal of the American Academy of Dermatology 2015: 72: 328-332 https://doi.org/10.1016/j.jaad.2014.10.034
  7. Lauria G, Lombardi R: Small fiber neuropathy: is skin biopsy the holy grail? Current diabetes reports 2012: 12: 384-392 https://doi.org/10.1007/s11892-012-0280-9
  8. Voortman M, Fritz D, Vogels OJM, Eftimov F, van de Beek D, Brouwer MC, et al: Small fiber neuropathy: a disabling and underrecognized syndrome. Current opinion in pulmonary medicine 2017: 23: 447-457 https://doi.org/10.1097/MCP.0000000000000413
  9. Bansal N: Prediabetes diagnosis and treatment: A review. World journal of diabetes 2015: 6: 296-303 https://doi.org/10.4239/wjd.v6.i2.296
  10. Themistocleous AC, Ramirez JD, Shillo PR, Lees JG, Selvarajah D, Orengo C, et al: The Pain in Neuropathy Study (PiNS): a cross-sectional observational study determining the somatosensory phenotype of painful and painless diabetic neuropathy. Pain 2016: 157: 1132-1145 https://doi.org/10.1097/j.pain.0000000000000491
  11. Khoshnoodi MA, Truelove S, Burakgazi A, Hoke A, Mammen AL, Polydefkis M: Longitudinal Assessment of Small Fiber Neuropathy: Evidence of a Non-Length-Dependent Distal Axonopathy. JAMA neurology 2016: 73: 684-690 https://doi.org/10.1001/jamaneurol.2016.0057
  12. Waheed W, Boyd J, Khan F, Mount SL, Borden NM, Tandan R: Double trouble: para-neoplastic anti-PCA-2 and CRMP-5-mediated small fibre neuropathy followed by chorea associated with small cell lung cancer and evolving radiological features. BMJ case reports 2016: 2016
  13. Puhakka A, Forssell H, Soinila S, Virtanen A, Roytta M, Laine M, et al: Peripheral nervous system involvement in primary burning mouth syndrome--results of a pilot study. Oral diseases 2016: 22: 338-344 https://doi.org/10.1111/odi.12454
  14. Lauria G, Lombardi R: Skin biopsy: a new tool for diagnosing peripheral neuropathy. BMJ (Clinical research ed) 2007: 334: 1159-1162 https://doi.org/10.1136/bmj.39192.488125.BE
  15. Doppler K, Rittner HL, Deckart M, Sommer C: Reduced dermal nerve fiber diameter in skin biopsies of patients with fibromyalgia. Pain 2015: 156: 2319-2325 https://doi.org/10.1097/j.pain.0000000000000285
  16. Giannoccaro MP, Donadio V, Incensi A, Avoni P, Liguori R: Small nerve fiber involvement in patients referred for fibromyalgia. Muscle & nerve 2014: 49: 757-759 https://doi.org/10.1002/mus.24156
  17. Dalla Bella E, Lombardi R, Porretta-Serapiglia C, Ciano C, Gellera C, Pensato V, et al: Amyotrophic lateral sclerosis causes small fiber pathology. European journal of neurology 2016: 23: 416-420 https://doi.org/10.1111/ene.12936
  18. de Araujo DF, de Melo Neto AP, Oliveira IS, Brito BS, de Araujo IT, Barros IS, et al: Small (autonomic) and large fiber neuropathy in Parkinson disease and parkinsonism. BMC neurology 2016: 16: 139 https://doi.org/10.1186/s12883-016-0667-3
  19. Petropoulos IN, Alam U, Fadavi H, Asghar O, Green P, Ponirakis G, et al: Corneal nerve loss detected with corneal confocal microscopy is symmetrical and related to the severity of diabetic polyneuropathy. Diabetes care 2013: 36: 3646-3651 https://doi.org/10.2337/dc13-0193
  20. Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, et al: Gain of function Nanu1.7 mutations in idiopathic small fiber neuropathy. Annals of neurology 2012: 71: 26-39 https://doi.org/10.1002/ana.22485
  21. Heij L, Niesters M, Swartjes M, Hoitsma E, Drent M, Dunne A, et al: Safety and efficacy of ARA 290 in sarcoidosis patients with symptoms of small fiber neuropathy: a randomized, double-blind pilot study. Molecular medicine (Cambridge, Mass) 2012: 18: 1430-1436
  22. Treister R, O'Neil K, Downs HM, Oaklander AL: Validation of the composite autonomic symptom scale 31 (COMPASS-31) in patients with and without small fiber polyneuropathy. European journal of neurology 2015: 22: 1124-1130 https://doi.org/10.1111/ene.12717
  23. Zilliox LA, Ruby SK, Singh S, Zhan M, Russell JW: Clinical neuropathy scales in neuropathy associated with impaired glucose tolerance. Journal of diabetes and its complications 2015: 29: 372-377 https://doi.org/10.1016/j.jdiacomp.2015.01.011
  24. Katsarava Z, Yaldizli O, Voulkoudis C, Diener HC, Kaube H, Maschke M: Pain related potentials by electrical stimulation of skin for detection of small-fiber neuropathy in HIV. Journal of neurology 2006: 253: 1581-1584 https://doi.org/10.1007/s00415-006-0262-4
  25. Mueller D, Obermann M, Koeppen S, Kavuk I, Yoon MS, Sack F, et al: Electrically evoked nociceptive potentials for early detection of diabetic small-fiber neuropathy. European journal of neurology 2010: 17: 834-841 https://doi.org/10.1111/j.1468-1331.2009.02938.x
  26. Thaisetthawatkul P, Fernandes Filho JA, Herrmann DN: Contribution of QSART to the diagnosis of small fiber neuropathy. Muscle & nerve 2013: 48: 883-888 https://doi.org/10.1002/mus.23891
  27. Blackmore D, Siddiqi ZA: Diagnostic Criteria for Small Fiber Neuropathy. Journal of clinical neuromuscular disease 2017:18: 125-131 https://doi.org/10.1097/CND.0000000000000154
  28. Ahmed A, Bril V, Orszag A, Paulson J, Yeung E, Ngo M, et al: Detection of diabetic sensorimotor polyneuropathy by corneal confocal microscopy in type 1 diabetes: a concurrent validity study. Diabetes care 2012: 35: 821-828 https://doi.org/10.2337/dc11-1396
  29. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, et al: Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 2009: 72: 185-192 https://doi.org/10.1212/01.wnl.0000336370.51010.a1
  30. Wang N, Gibbons CH: Skin biopsies in the assessment of the autonomic nervous system. Handbook of clinical neurology 2013: 117: 371-378
  31. Wang L, Hilliges M, Jernberg T, Wiegleb-Edstrom D, Johansson O: Protein gene product 9.5-immunoreactive nerve fibres and cells in human skin. Cell and tissue research 1990:261: 25-33 https://doi.org/10.1007/BF00329435
  32. Lauria G, Cornblath DR, Johansson O, McArthur JC, Mellgren SI, Nolano M, et al: EFNS guidelines on the use of skin biopsy in the diagnosis of peripheral neuropathy. European journal of neurology : the official journal of the European Federation of Neurological Societies 2005: 12: 747-758 https://doi.org/10.1111/j.1468-1331.2005.01260.x
  33. Lauria G, Hsieh ST, Johansson O, Kennedy WR, Leger JM, Mellgren SI, et al: European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. European journal of neurology : the official journal of the European Federation of Neurological Societies 2010: 17: 903-912, e944-909 https://doi.org/10.1111/j.1468-1331.2010.03023.x
  34. Mellgren SI, Nolano M, Sommer C: The cutaneous nerve biopsy: technical aspects, indications, and contribution. Handbook of clinical neurology 2013: 115: 171-188
  35. Wang N, Gibbons CH, Freeman R: Novel immunohistochemical techniques using discrete signal amplification systems for human cutaneous peripheral nerve fiber imaging. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2011: 59: 382-390 https://doi.org/10.1369/0022155410396931
  36. Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, et al: The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain : a journal of neurology 2008: 131: 1912-1925 https://doi.org/10.1093/brain/awn093
  37. Lauria G, Bakkers M, Schmitz C, Lombardi R, Penza P, Devigili G, et al: Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study. Journal of the peripheral nervous system : JPNS 2010: 15: 202-207 https://doi.org/10.1111/j.1529-8027.2010.00271.x
  38. Provitera V, Gibbons CH, Wendelschafer-Crabb G, Donadio V, Vitale DF, Stancanelli A, et al: A multi-center, multinational age- and gender-adjusted normative dataset for immunofluorescent intraepidermal nerve fiber density at the distal leg. European journal of neurology : the official journal of the European Federation of Neurological Societies 2016: 23: 333-338 https://doi.org/10.1111/ene.12842
  39. Lauria G, Dacci P, Lombardi R, Cazzato D, Porretta-Serapiglia C, Taiana M, et al: Side and time variability of intraepidermal nerve fiber density. Neurology 2015: 84: 2368-2371 https://doi.org/10.1212/WNL.0000000000001666
  40. Gibbons CH, Illigens BM, Wang N, Freeman R: Quantification of sudomotor innervation: a comparison of three methods. Muscle & nerve 2010: 42: 112-119 https://doi.org/10.1002/mus.21626
  41. Nolano M, Provitera V, Caporaso G, Stancanelli A, Vitale DF, Santoro L: Quantification of pilomotor nerves: a new tool to evaluate autonomic involvement in diabetes. Neurology 2010: 75: 1089-1097 https://doi.org/10.1212/WNL.0b013e3181f39cf4
  42. Tesfaye S, Boulton AJ, Dyck PJ, Freeman R, Horowitz M, Kempler P, et al: Diabetic neuropathies: update on definitions, diagnostic criteria, estimation of severity, and treatments. Diabetes care 2010: 33: 2285-2293 https://doi.org/10.2337/dc10-1303
  43. Wang N, Gibbons CH, Lafo J, Freeman R: alpha-Synuclein in cutaneous autonomic nerves. Neurology 2013: 81: 1604-1610 https://doi.org/10.1212/WNL.0b013e3182a9f449
  44. Schneider SA, Boettner M, Alexoudi A, Zorenkov D, Deuschl G, Wedel T: Can we use peripheral tissue biopsies to diagnose Parkinson's disease? A review of the literature. European journal of neurology : the official journal of the European Federation of Neurological Societies 2016: 23: 247-261 https://doi.org/10.1111/ene.12753