Use of Skin Biopsy in the Diagnosis of Small Fibre Neuropathy

Lauria, Giuseppe; Hsieh, Sung‐Tsang; Johansson, Ӧlle; Kennedy, William R.; Léger, Jean‐Marc; Mellgren, Svein Ivar; Nolano, Maria; Merkies, I. S.J.; Polydefkis, Michael; Smith, A. Gordon; Sommer, Claudia; Valls‐Solé, Josep

doi:10.1002/9781444328394.ch7

Cited by 12 publications

(18 citation statements)

References 70 publications

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“…In patients suspected to have small-fiber neuropathy, skin biopsy to evaluate intraepidermal nerve fiber density (IENFD) is useful to confirm the diagnosis. 5 Fine-needle aspiration biopsy of the abdominal fat pad with Congo Red staining is a minimally invasive procedure used to demonstrate tissue deposits of amyloid in patients with neuropathy related to amyloidosis. 6 For patients with autonomic neuropathy, the quantitative sudomotor axon reflex sweat test (QSART) is the most widely used test of autonomic sudomotor function.…”

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confidence: 99%

A Clinician's Approach to Peripheral Neuropathy

Siao

Kaku

2019

Semin Neurol

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Peripheral neuropathies are a group of disorders that affect the peripheral nervous system, for which hundreds of etiologies have been identified. This article presents a stepwise approach to the evaluation and workup of peripheral neuropathy, which starts with a detailed history of symptoms, family and occupational history, and a neurological as well as general physical exam. Pattern recognition of various neuropathies can help to build a differential diagnosis based on the presentation. Such patterns include acute versus chronic, primary demyelinating versus axonal, hereditary versus acquired, asymmetric versus symmetric, presence of facial palsies, sensory or motor predominant, and presence of prominent autonomic symptoms. Early categorization of the type of neuropathy can help focus the workup for peripheral neuropathy. Nerve conduction studies and electromyography (NCS/EMG) is the primary diagnostic tool in the evaluation of patients with large-fiber polyneuropathy. One of the most important roles of NCS/EMG is to help categorize polyneuropathy as primary axonal versus primary demyelinating. The finding of a primary demyelinating polyneuropathy narrows the differential diagnosis of polyneuropathy dramatically and increases the chances of finding a treatable etiology. Laboratory workup includes serum studies and potentially cerebrospinal fluid, genetic studies, immunological markers, and fat pad biopsy for select patients. Skin biopsy may be used to assess intraepidermal nerve fiber density if small-fiber neuropathy is suspected, and nerve biopsy may be useful in select cases. In recent years, magnetic resonance imaging and neuromuscular ultrasound have also shown promise in the evaluation of peripheral neuropathy. Identification of the etiology of neuropathy is crucial and often time-sensitive, as an increasing number of causes are now reversible or treatable.

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confidence: 99%

A Clinician's Approach to Peripheral Neuropathy

Siao

Kaku

2019

Semin Neurol

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“…Further, skin biopsy results inconsistently correlate with complaints. 76,77 Corneal confocal microscopy can detect early nerve damage and correlates with neuropathy severity and progressive corneal nerve degeneration. [78][79][80][81] Despite high diagnostic potential, it is as yet not widely available and normative values across patient populations require defining.…”

Section: Small Fiber Neuropathymentioning

confidence: 99%

The Burden of Neurosarcoidosis: Essential Approaches to Early Diagnosis and Treatment

Voortman

Stern

Saketkoo

et al. 2020

Semin Respir Crit Care Med

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Neurosarcoidosis (NS) is an often severe, destructive manifestation with a likely under-reported prevalence of 5 to 15% of sarcoidosis cases, and in its active phase demands timely treatment intervention. Clinical signs and symptoms of NS are variable and wide-ranging, depending on anatomical involvement. Cranial nerve dysfunction, cerebrospinal parenchymal disease, aseptic meningitis, and leptomeningeal disease are the most commonly recognized manifestations. However, non-organ-specific potentially neurologically driven symptoms, such as fatigue, cognitive dysfunction, and small fiber neuropathy, appear frequently.Heterogeneous clinical presentations and absence of any single conclusive test or biomarker render NS, and sarcoidosis itself, a challenging definitive diagnosis. Clinical suspicion of NS warrants a thorough systemic and neurologic evaluation hopefully resulting in supportive extraneural physical exam and/or tissue findings. Treatment targets the severity of the manifestation, with careful discernment of whether NS reflects active potentially reversible inflammatory granulomatous disease versus inactive postinflammatory damage whereby functional impairment is unlikely to be pharmacologically responsive. Non-organ-specific symptoms are poorly understood, challenging in deciphering reversibility and often identified too late to respond to conventional immunosuppressive/pharmacological treatment. Physical therapy, coping strategies, and stress reduction may benefit patients with all disease activity levels of NS.This publication provides an approach to screening, diagnosis, disease activity discernment, and pharmacological as well as nonpharmacological treatment interventions to reduce disability and protect health-related quality of life in NS.

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“…32 Primary Outcome: Objective Diagnosis of SFPN There are no consensus diagnostic criteria for SFPN in adults or children, 33 so we integrated the results of all recommended objective diagnostic tests; PGP9.5-immunolabeled, distal-leg skin biopsy, AFT, and sensory nerve biopsy. 11,12 Confirmed SFPN required $1 definite objective-test SFPN diagnosis. Probable SFPN required minor abnormalities on $2 different tests, and possible SFPN required $1 minor objective abnormality.…”

Section: Selection Of Cases and Recordsmentioning

confidence: 99%

“…The tests recommended for objective SFPN diagnosis were applied here: specifically distal-leg skin biopsy immunolabeled to reveal nociceptive epidermal nerve-fibers (ENF) 10 (level C recommendation by the American Academy of Neurology, level A recommendation by the European Federation of Neurologic Societies), 11,12 and autonomic function testing (AFT). This consists of 4 validated tests of cardiovagal, adrenergic, and sudomotor small-fiber function (level B recommendation by the American Academy of Neurology).…”

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confidence: 99%

Evidence of Small-Fiber Polyneuropathy in Unexplained, Juvenile-Onset, Widespread Pain Syndromes

2013

PEDIATRICS

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WHAT'S KNOWN ON THIS SUBJECT: Acquired widespread pain syndromes of youth are prevalent, disabling, usually unexplained, and untreatable. Small-fiber polyneuropathy causes widespread pain and multisystem complaints in older adults. Some causes are treatable. Neurodiagnostic skin biopsy, autonomic function testing, and nerve biopsy permit objective diagnosis.WHAT THIS STUDY ADDS: It identifies definite (in 59%) and probable (in 17%) small-fiber polyneuropathy among 41 young patients with otherwise-unexplained, childhood-onset widespread pain. It characterizes this new disease' s clinical features, diagnostic, and treatment options. Some cases appeared immune mediated and responded to immunomodulatory therapies. abstract OBJECTIVE: We tested the hypothesis that acquired small-fiber polyneuropathy (SFPN), previously uncharacterized in children, contributes to unexplained pediatric widespread pain syndromes.METHODS: Forty-one consecutive patients evaluated for unexplained widespread pain beginning before age 21 had medical records comprehensively analyzed regarding objective diagnostic testing for SFPN (neurodiagnostic skin biopsy, nerve biopsy, and autonomic function testing), plus histories, symptoms, signs, other tests, and treatments. Healthy, demographically matched volunteers provided normal controls for SFPN tests.RESULTS: Age at illness onset averaged 12.3 6 5.7 years; 73% among this poly-ethnic sample were female (P = .001). Sixty-eight percent were chronically disabled, and 68% had hospitalizations. Objective testing diagnosed definite SFPN in 59%, probable SFPN in 17%, and possible SFPN in 22%. Only 1 of 41 had entirely normal SFPN test results. Ninetyeight percent of patients had other somatic complaints consistent with SFPN dysautonomia (90% cardiovascular, 82% gastrointestinal, and 34% urologic), 83% reported chronic fatigue, and 63% had chronic headache. Neurologic examinations identified reduced sensation in 68% and vasomotor abnormalities in 55%, including 23% with erythromelalgia. Exhaustive investigations for SFPN causality identified only history of autoimmune illnesses in 33% and serologic markers of disordered immunity in 89%. Treatment with corticosteroids and/or intravenous immune globulin objectively and subjectively benefited 80% of patients (12/15). CONCLUSIONS:More than half among a large series of patients with childhood-onset, unexplained chronic widespread pain met rigorous, multitest, diagnostic criteria for SFPN, which extends the age range of acquired SFPN into early childhood. Some cases appeared immunemediated and improved with immunomodulatory therapies. Pediatrics 2013;131:e1091-e1100

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Use of Skin Biopsy in the Diagnosis of Small Fibre Neuropathy

Cited by 12 publications

References 70 publications

A Clinician's Approach to Peripheral Neuropathy

A Clinician's Approach to Peripheral Neuropathy

The Burden of Neurosarcoidosis: Essential Approaches to Early Diagnosis and Treatment

Evidence of Small-Fiber Polyneuropathy in Unexplained, Juvenile-Onset, Widespread Pain Syndromes

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