Incidence and prevalence of small-fiber neuropathy

Peters, Martine J. H.; Bakkers, Mayienne; Merkies, Ingemar S. J.; Hoeijmakers, Janneke G. J.; Raak, E.P.M. van; Faber, Catharina G.

doi:10.1212/wnl.0b013e3182a8236e

Cited by 123 publications

(104 citation statements)

References 24 publications

(14 reference statements)

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“…To date, the only epidemiological study in SFN has been performed in the Netherlands. It showed an overall minimum incidence of 12 cases per 100 000 inhabitants per year with long‐term persistent complaints …”

Section: Epidemiologymentioning

confidence: 99%

Small‐fiber neuropathy: Expanding the clinical pain universe

Sopacua

Hoeijmakers

Merkies

et al. 2019

J Peripheral Nervous Sys

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Small‐fiber neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intraepidermal nerve fiber density and/or quantitative sensory testing. SFN is mainly associated with autoimmune diseases, sodium channel gene variants, diabetes mellitus, and vitamin B12 deficiencies, although in more than one half of patients no etiology can be identified. Recently, gain‐of‐function variants in the genes encoding for the Nav1.7, Nav1.8 and Nav1.9 sodium channel subunits have been discovered in SFN patients, enlarging the spectrum of underlying conditions. Sodium channel gene variants associated with SFN can lead to a diversity of phenotypes, including different pain distributions and presence or absence of autonomic symptoms. This suggests that SFN is part of a clinical continuum. New assessments might contribute to a better understanding of the cellular and molecular substrates of SFN and might provide improved diagnostic methods and trial designs in the future. Identification of the underlying mechanisms may inform the development of drugs that more effectively address neuropathic pain and autonomic symptoms of SFN.

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Section: Epidemiologymentioning

confidence: 99%

Small‐fiber neuropathy: Expanding the clinical pain universe

Sopacua

Hoeijmakers

Merkies

et al. 2019

J Peripheral Nervous Sys

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“…Alternatively, classification based on clinical phenotype has also been proposed 49. Despite extensive evaluation, 20-50% of cases of SFN are ultimately classified as idiopathic 50515253. The most common causes include diabetes, immunologic conditions, sodium channel mutations, and vitamin B12 deficiency 29.…”

Section: Differential Diagnosis Of Small Fiber Neuropathiesmentioning

confidence: 99%

Diagnosis and management of sensory polyneuropathy

Gwathmey

Pearson

2019

BMJ

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Sensory polyneuropathies, which are caused by dysfunction of peripheral sensory nerve fibers, are a heterogeneous group of disorders that range from the common diabetic neuropathy to the rare sensory neuronopathies. The presenting symptoms, acuity, time course, severity, and subsequent morbidity vary and depend on the type of fiber that is affected and the underlying cause. Damage to small thinly myelinated and unmyelinated nerve fibers results in neuropathic pain, whereas damage to large myelinated sensory afferents results in proprioceptive deficits and ataxia. The causes of these disorders are diverse and include metabolic, toxic, infectious, inflammatory, autoimmune, and genetic conditions. Idiopathic sensory polyneuropathies are common although they should be considered a diagnosis of exclusion. The diagnostic evaluation involves electrophysiologic testing including nerve conduction studies, histopathologic analysis of nerve tissue, serum studies, and sometimes autonomic testing and cerebrospinal fluid analysis. The treatment of these diseases depends on the underlying cause and may include immunotherapy, mitigation of risk factors, symptomatic treatment, and gene therapy, such as the recently developed RNA interference and antisense oligonucleotide therapies for transthyretin familial amyloid polyneuropathy. Many of these disorders have no directed treatment, in which case management remains symptomatic and supportive. More research is needed into the underlying pathophysiology of nerve damage in these polyneuropathies to guide advances in treatment.

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“…The second largest group of SFPN patients, comprising 20–50% in recent series [19, 22, 26, 51, 69], is those with “initially idiopathic” or cryptogenic causes (here abbreviated as iiSFPN). They are the focus of the current study.…”

Section: Introductionmentioning

confidence: 99%

“…Infectious causes include human immunodeficiency virus [62], hepatitis C [10], leprosy [38], and Lyme disease [25]. Rare genetic variants underlie some familial and sporadic cases, with a Dutch SFPN cohort reporting 2.3% prevalence of SCN9A sodium-channel mutations [51]. …”

Section: Introductionmentioning

confidence: 99%

Diagnostic value of blood tests for occult causes of initially idiopathic small-fiber polyneuropathy

2016

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Small-fiber polyneuropathy (SFPN) causes non-specific symptoms including chronic pain, cardiovascular, gastrointestinal, and sweating complaints. Diagnosis is made from history and exam in patients with known risk factors such as diabetes, but objective test confirmation is recommended for patients without known risks. If tests confirm SFPN, and it is “initially idiopathic” (iiSFPN), screening for occult causes is standard. This study’s aim was to evaluate the 21 widely available, recommended blood tests to identify the most cost-effective ones and to learn about occult causes of iiSFPN. Records were reviewed from all 213 patients with SFPN confirmed by distal-leg skin biopsy, nerve biopsy, or autonomic-function testing in our regional center during 2013. We determined the prevalence of each abnormal blood-test result (ABTR) in the iiSFPN cohort, compared this to population averages, and measured the costs of screening subjects to obtain one ABTR. Participants were 70% female and 43.0±18.6 years old. High erythrocyte sedimentation rate (ESR) and antinuclear antibody (ANA; ≥1:160 titer) were each present in 28% of subjects. The ABTR ≥ 3× more prevalent in iiSFPN than in the total population were high ESR, high ANA, low C3, Sjögren’s and celiac autoantibodies. Together, these suggest the possibility of a specific association between iiSFPN and dysimmunity. ATR identifying diabetes, prediabetes, and hypertriglyceridemia were less common in iiSFPN than in the population and thus not associated with iiSFPN here. Reimbursement for the 6 most cost-effective iiSFPN-associated blood tests–ESR, ANA, C3, autoantibodies for Sjögren’s and celiac, plus thyroid-stimulating hormone–was $99.57/person with 45.6% sensitivity for detecting one abnormal result. Angiotensin-converting enzyme was elevated in 45% but no patients had sarcoidosis, so this test was futile here.

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Incidence and prevalence of small-fiber neuropathy

Cited by 123 publications

References 24 publications

Small‐fiber neuropathy: Expanding the clinical pain universe

Small‐fiber neuropathy: Expanding the clinical pain universe

Diagnosis and management of sensory polyneuropathy

Diagnostic value of blood tests for occult causes of initially idiopathic small-fiber polyneuropathy

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