Diagnosis of peripheral neuropathy
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(2020) 2:20
Neurological Research and Practice
STANDARD OPERATING PROCEDURE
Open Access
Diagnosis of peripheral neuropathy Helmar C. Lehmann1*, Gilbert Wunderlich1,2, Gereon R. Fink1,3 and Claudia Sommer4
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: Peripheral neuropathy, Diagnosis, EMG, Nerve conduction studies, Hereditary amyloid transthyretin (ATTRv) amyloidosis, CIDP, Diabetic, Ultrasound
Introduction Peripheral neuropathies are among the most common neurological diseases with an incidence of 77/100,000 inhabitants per year and a prevalence of 1–12% in all age groups and up to 30% in older people [1–3]. In the USA, it is estimated that patients with idiopathic neuropathies outnumber patients with Alzheimer’s disease up to threefold [4]. The diagnosis of peripheral neuropathy necessitates a thorough workup of possible etiologies in order to identify treatable causes of this disease spectrum as early as possible. For instance, almost every 10th patient suffers from a polyneuropathy of autoimmune origin [1], which is amenable to causal (immunosuppressive or immunomodulatory) therapies and, * Correspondence: [email protected] 1 Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Kerpener Straße 62, D-50937 Köln, Germany Full list of author information is available at the end of the article
therefore, must not be overlooked. Recently, even hereditary neuropathies have entered the “era of treatment in neurology”, with the approval for transthyretin stabilizing agents (tafamidis), RNA interference molecules (p
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