Characteristics of patients with sensory neuropathy diagnosed with abnormal small nerve fibres on skin biopsy

Sousa, Eduardo A. De; Hays, Arthur P.; Chin, Russell L.; Sander, Howard W.; Brannagan, Thomas H.

doi:10.1136/jnnp.2006.091074

Cited by 52 publications

(48 citation statements)

References 13 publications

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“…Small fiber neuropathy has many causes (Table 1) [5,14,16,27,34,[43][44][45][46][47][48] and may be the first manifestation of an underlying systemic disease. SFSN usually is length [13•, 27, 45].…”

Section: Utility Of Skin Biopsy For Detecting Neuropathymentioning

confidence: 99%

“…The finding of a reliable and robust marker of axons in skin has yielded important insights into the biology of the peripheral nervous system in health and disease [3,4]. The technique is minimally invasive and allows quantitative analysis of unmyelinated nerve fibers of the epidermis and dermis to help establish a diagnosis of neuropathy [5] and to monitor the disorder in response to treatment [6]. The method is of greatest utility in small fiber sensory neuropathy (SFSN; Fig.…”

Section: Introductionmentioning

confidence: 99%

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Utility of Skin Biopsy to Evaluate Peripheral Neuropathy

Hays

2010

Curr Neurol Neurosci Rep

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Skin biopsy for epidermal nerve fiber analysis provides an important objective test for the diagnosis of peripheral neuropathy, particularly small fiber sensory neuropathy (SFSN). The determination of epidermal nerve fiber density (ENFD) is reliable, with high diagnostic specificity and good sensitivity. Because of false negatives, biopsy results must be interpreted in conjunction with neurologic findings and laboratory results, including objective tests of sensory and autonomic function. SFSN most commonly is length dependent and is idiopathic in about half the patients. Biopsy of a proximal site (thigh) and a distal site (calf) typically shows greater abnormality of ENFD distally than proximally. More severe abnormality of ENFD in the thigh than in the calf raises the possibility of a non-length-dependent SFSN. The causes of this type of neuropathy, such as Sjögren's syndrome, sarcoidosis, and celiac disease, may be treatable.

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Section: Utility Of Skin Biopsy For Detecting Neuropathymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Utility of Skin Biopsy to Evaluate Peripheral Neuropathy

Hays

2010

Curr Neurol Neurosci Rep

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“…This is true to a greater degree in patients with small fiber neuropathy where 50% or more of patients have idiopathic neuropathy (Periquet et al, 1999;Venkataramana et al, 2005;De Sousa et al, 2006) (Table 1). Singer et al (2012) discussed current research being done in idiopathic neuropathy.…”

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confidence: 97%

Current issues in peripheral neuropathy

Brannagan¹

2012

J Peripheral Nervous Sys

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Twenty million people in the United States are estimated to have peripheral neuropathy. However, many patients are not aware of their diagnosis, are not given the diagnosis or being treated, or the diagnosis is delayed. Currently, the only treatments available for neuropathy are aimed at treating the underlying medical conditions that cause the neuropathy or treating symptoms such as pain. Neither treats the actual nerve fiber dysfunction or fiber loss, or helps nerve fibers regenerate. Idiopathic neuropathy, that is neuropathy for which a cause is not identified, is common, accounting in referral series for 25% in all neuropathy patients and 50% or more of patients with small fiber neuropathy. Currently, there is only one FDA-approved medication for a specific neuropathy (chronic inflammatory demylinating polyneuropathy) while there are two FDA approved medications for diabetic neuropathy pain and four that are approved for post-herpetic neuralgia pain. For many patients with painful neuropathy, these medications are ineffective or not tolerated. Continued research into the underlying mechanisms of neuropathy and an increased understanding of nerve regeneration and neuropathic pain are needed to address this unmet medical need among patients with neuropathy.Key words: chronic inflammatory demyelinating polyradiculoneuropathy, diabetic neuropathy, nerve regeneration, neuropathic pain, peripheral neuropathy Despite the enormous physical, emotional, and financial toll neuropathy takes on Americans' health and our health care system, neuropathy remains one of the least recognized illnesses in the United States today. In a survey of patients with diabetes mellitus about symptoms of neuropathy, only one of four patients with symptoms of neuropathy had been diagnosed with the disease. Fifty-six percent of those with symptoms were unaware of the term diabetic neuropathy. Over half believed their symptoms were related to diabetes mellitus, but only 42% had been told by their doctor that diabetes was the cause. And one in seven said no cause was mentioned

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“…Dies lässt sich zum einen dadurch erklären, dass die Abnahme der Nervenfaserdichte schon früh im Verlauf einer Neuropathie nachweisbar ist und einem pathologischen Befund in der Neurographie vorausgehen kann [12]. Zum anderen kann sich eine SmallFiber-Neuropathie auch mit negativen sensiblen Symptomen präsentieren [8,22].…”

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“…Bis [22]. Bei Devigili et al erwiesen sich 42% als idiopathisch, 37% durch Diabetes mellitus/pathologische Glukosetoleranz und 6% durch MGUS bedingt [12].…”

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Die Bestimmung der intraepidermalen Nervenfaserdichte in der Hautbiopsie - eine valide Methode zur Diagnostik von isolierten Small Fiber Neuropathien Erste Erfahrungen an der neurologischen Universitätsklinik Basel

2011

Swiss Arch Neurol Psychiatr

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SummaryEvaluation of intra-epidermal nerve fibre density in skin biopsy Background: Small fibre neuropathy is a sensory neuropathy affecting small, thinly myelinated Ad-fibres and unmyelinated C-fibres. It clinically presents with burning pain and sensory symptoms. As nerve conduction studies mainly detect large fibre function, they often show normal values. Skin biopsy is a new, minimally invasive and painless tool for the diagnosis of small fibre neuropathy.Objective: Evaluation of the newly established method of skin biopsies for the diagnosis of small fibre neuropathy at the University Hospital Basel.Material/Methods: Between 2007 and 2009, a total of 50 patients presenting with neuropathic symptoms were examined clinically, electrophysiologically and by skin biopsies at the University Hospital Basel. Biopsies were taken under local anaesthesia, using a 3-mm punch. Three sections of each specimen were stained immunohistochemically with anti-protein-geneproduct 9.5 antibody. The intra-epidermal nerve fibres were counted and assessed according to published normative values.Results: Out of the 50 patients presenting with neuropathic symptoms, 35 had normal nerve conduction studies. In 28 of these patients, a reduced intra-epidermal nerve fibre density was found, suggesting a pure small fibre neuropathy. Atotal of 7patients had neuropathic symptoms without reduction of intra-epidermal nerve fibres. In addition, skin biopsies of 15 patients with clinically and electrophysiologically diagnosed polyneuropathy were analysed. In all of these patients an involvement of small fibres was detected. Aetiological work-up for each patient resulted in findings consistent with previously published data: pure small fibre neuropathy was associated with impaired glucose tolerance in 7.1% (2 patients), diabetes in 7.1% (2 patients), MGUS in 7.1% (2 patients) and with polyarthritis, alcoholtoxicity, hepatitis B, hepatitis C, Sjögren's syndrome and sarcoidosis in 3.5% (1 patient). In 57.1% (16 patients), the neuropathy was classified as idiopathic small fibre neuropathy.Conclusions: Skin biopsy proves to be an effective and sensitive method for the diagnosis of small fibre neuropathy. It is especially helpful in patients with an isolated lesion of small fibres where nerve conduction studies show normal values. Our results are consistent with the published data and applicable in a tertiary referral centre.

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Characteristics of patients with sensory neuropathy diagnosed with abnormal small nerve fibres on skin biopsy

Cited by 52 publications

References 13 publications

Utility of Skin Biopsy to Evaluate Peripheral Neuropathy

Utility of Skin Biopsy to Evaluate Peripheral Neuropathy

Current issues in peripheral neuropathy

Die Bestimmung der intraepidermalen Nervenfaserdichte in der Hautbiopsie - eine valide Methode zur Diagnostik von isolierten Small Fiber Neuropathien Erste Erfahrungen an der neurologischen Universitätsklinik Basel

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