Diagnosis of peripheral neuropathy

Helmar C Lehmann, Gilbert Wunderlich, Gereon R Fink, Claudia Sommer, Helmar C Lehmann, Gilbert Wunderlich, Gereon R Fink, Claudia Sommer

Abstract

Introduction: Peripheral neuropathy represents a spectrum of diseases with different etiologies. The most common causes are diabetes, exposure to toxic substances including alcohol and chemotherapeutics, immune-mediated conditions, and gene mutations. A thorough workup including clinical history and examination, nerve conduction studies, and comprehensive laboratory tests is warranted to identify treatable causes.

First steps: The variability of symptoms allows distinguishing characteristic clinical phenotypes of peripheral neuropathy that should be recognized in order to stratify the diagnostic workup accordingly. Nerve conduction studies are essential to determine the phenotype (axonal versus demyelinating) and severity. Laboratory tests, including genetic testing, CSF examination, nerve imaging, and nerve biopsy, represent additional clinical tests that can be useful in specific clinical scenarios.

Comments: We propose a flow chart based on five common basic clinical patterns of peripheral neuropathy. Based on these five clinical phenotypes, we suggest differential diagnostic pathways in order to establish the underlying cause.

Conclusions: The recognition of characteristic clinical phenotypes combined with nerve conduction studies allows pursuing subsequent diagnostic pathways that incorporate nerve conduction studies and additional diagnostic tests. This two-tiered approach promises higher yield and better cost-effectiveness in the diagnostic workup in patients with peripheral neuropathy.

Keywords: CIDP; Diabetic; Diagnosis; EMG; Hereditary amyloid transthyretin (ATTRv) amyloidosis; Nerve conduction studies; Peripheral neuropathy; Ultrasound.

Conflict of interest statement

Competing interestsNone.

© The Author(s) 2020.

Figures

Fig. 1
Fig. 1
Flow chart of a diagnostic algorithm for the workup of patients with peripheral neuropathy. According to the established clinical patterns, based on clinical history and examination, diagnostic procedures can be stratified. Abs = antibodies, ATTRv = hereditary transthyretin amyloidosis, CIAP = chronic idiopathic axonal polyneuropathy, CSF = cerebrospinal fluid, i.a.= if applicable, SNAP = sensory nerve action potential
Fig. 2
Fig. 2
a Disease onset and temporal evolution characteristics of distinguishable clinical patterns and different causes of peripheral neuropathy. b Clinical patterns of polyneuropathy: Sensory deficits are drawn in blue, motor deficits are drawn in red, and sensorimotor in magenta color. Painful and / or autonomous dysfunction is colored with green lines. Loss of proprioception is colored in brown. Pattern #1 is a distal symmetric predominantly sensory neuropathy, #2 a motor neuropathy with muscle wasting and foot abnormalities; pattern #3 is characterized by proximal involvement of sensory and motor nerve fibers, pattern #4 presents wih multifocal symptoms, neuropathic pain, and autonomic dysfunction. Pattern #5: is a sensory ataxic neuropathy

References

    1. Visser NA, et al. Incidence of polyneuropathy in Utrecht, the Netherlands. Neurology. 2015;84(3):259–264. doi: 10.1212/WNL.0000000000001160.
    1. Hanewinckel R, et al. Prevalence of polyneuropathy in the general middle-aged and elderly population. Neurology. 2016;87(18):1892–1898. doi: 10.1212/WNL.0000000000003293.
    1. Hanewinckel R, et al. The epidemiology and risk factors of chronic polyneuropathy. European Journal of Epidemiology. 2016;31(1):5–20. doi: 10.1007/s10654-015-0094-6.
    1. Singer MA, Vernino SA, Wolfe GI. Idiopathic neuropathy: New paradigms, new promise. Journal of the Peripheral Nervous System. 2012;17(Suppl 2):43–49. doi: 10.1111/j.1529-8027.2012.00395.x.
    1. Rudolph T, Farbu E. Hospital-referred polyneuropathies--causes, prevalences, clinical- and neurophysiological findings. European Journal of Neurology. 2007;14(6):603–608. doi: 10.1111/j.1468-1331.2007.01758.x.
    1. Verghese J, et al. Peripheral neuropathy in young-old and old-old patients. Muscle & Nerve. 2001;24(11):1476–1481. doi: 10.1002/mus.1171.
    1. England JD, 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(2):185–192. doi: 10.1212/01.wnl.0000336370.51010.a1.
    1. Callaghan BC, Price RS, Feldman EL. Distal symmetric polyneuropathy: A review. Jama. 2015;314(20):2172–2181. doi: 10.1001/jama.2015.13611.
    1. Heuß D. Diagnostik bei Polyneuropathien, S1-Leitlinie, in Leitlinien für Diagnostik und Therapie in der Neurologie. 2019.
    1. Overell JR. Peripheral neuropathy: Pattern recognition for the pragmatist. Practical Neurology. 2011;11(2):62–70. doi: 10.1136/jnnp.2011.241612.
    1. Poncelet AN. An algorithm for the evaluation of peripheral neuropathy. American Family Physician. 1998;57(4):755–764.
    1. Vavra MW, Rubin DI. The peripheral neuropathy evaluation in an office-based neurology setting. Seminars in Neurology. 2011;31(1):102–114. doi: 10.1055/s-0031-1271305.
    1. Lehmann, H. C., Burke, D., & Kuwabara, S. (2019). Chronic inflammatory demyelinating polyneuropathy: Update on diagnosis, immunopathogenesis and treatment. Journal of Neurology, Neurosurgery, and Psychiatry, 90(9), 981-987
    1. Gwathmey KG. Sensory neuronopathies. Muscle & Nerve. 2016;53(1):8–19. doi: 10.1002/mus.24943.
    1. Joint_Task_Force_of_the_EFNS_and_the_PNS European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society--First Revision. J Peripher Nerv Syst. 2010;15(1):1–9. doi: 10.1111/j.1529-8027.2010.00245.x.
    1. Fridman V, et al. CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: A cross-sectional analysis. Journal of Neurology, Neurosurgery, and Psychiatry. 2015;86(8):873–878. doi: 10.1136/jnnp-2014-308826.
    1. Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15(3):187–198. doi: 10.1136/practneurol-2015-001095.
    1. Telleman JA, et al. Nerve ultrasound in polyneuropathies. Muscle & Nerve. 2018;57(5):716–728. doi: 10.1002/mus.26029.

Source: PubMed

Sponzoři a spolupracovníci

Zdravotní podmínky

Drogové intervence

3
Předplatit