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

Lang, Magdalena; Treister, Roi; Oaklander, Anne Louise

doi:10.1007/s00415-016-8270-5

Cited by 39 publications

(57 citation statements)

References 77 publications

(106 reference statements)

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“…Although immunologic conditions were found in 19% of a cohort of 921 patients with SFN, which exceeds the prevalence in the general population, the exact pathogenic role of isolated autoantibodies remains unclear 2954. In one series, the highest yield blood tests in SFN that appeared to be “initially idiopathic” were erythrocyte sedimentation rate (ESR), antinuclear antibodies (ANA), C3 complement values, and autoantibodies that are associated with Sjögren’s syndrome and celiac disease 55. It has been recommended that patients are screened for glucose intolerance, vitamin B12 deficiency, and sodium channel mutations even if there is a known underlying cause 2954…”

Section: Differential Diagnosis Of Small Fiber Neuropathiesmentioning

confidence: 99%

“…Patients in this category, who have evidence of systemic autoimmune disorders and blood markers of autoimmunity, have been described as having an atypical, painful SFN that responds to corticosteroids and intravenous immunoglobulins 55818283. This classification is not universally accepted and these findings need to be reproduced in large prospective clinical trials.…”

Section: Differential Diagnosis Of Small Fiber Neuropathiesmentioning

confidence: 99%

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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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Section: Differential Diagnosis Of Small Fiber Neuropathiesmentioning

confidence: 99%

Section: Differential Diagnosis Of Small Fiber Neuropathiesmentioning

confidence: 99%

Diagnosis and management of sensory polyneuropathy

Gwathmey

Pearson

2019

BMJ

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“…Case 1 additionally had punch skin biopsy of the thigh (20 cm distal to the anterior superior iliac spine), which showed 68 neurites/mm 2 , for which there is no available normative data, though clearly abnormal as it is shows less epidermal nerve-fiber density than the distal leg, thus supporting the diagnosis of a non-length dependent small-fiber neuropathy. An extensive laboratory work-up for endocrine, nutritional, infectious, rheumatologic and other inflammatory etiologies of SFN including hemoglobin A1C, serum protein electrophoeresis (SPEP), vitamin B12, erythrocyte sedimentation rate (ESR), antinuclear antibody (ANA), Sjögren's syndrome serology (SS-A, SS-B), celiac disease serology (TTG-IgG, TTG-IgA), was unrevealing [4]. Case 2 had an elevated ACE level (65), but PET-CT of chest, abdomen and pelvis was did not reveal sarcoidosis.…”

Section: Objective Datamentioning

confidence: 99%

“…Associated structural or medical conditions were not detected [4,5], although seronegative regional immune/inflammatory conditions remain possible. Systemic autoimmune condition as Sjögren's syndrome and celiac disease have been reported to present with a non-length dependent sensory neuropathies, but both disease serologies were negative in our cases [6,7].…”

Section: Commentsmentioning

confidence: 99%

Evidence of small-fiber neuropathy (SFN) in two patients with unexplained genital sensory loss and sensory urinary cystopathy

AbdelRazek

Chwalisz

Oaklander

et al. 2017

Journal of the Neurological Sciences

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“…In those with known causes, impaired glucose metabolism, chronic inflammatory demyelinating polyneuropathy, and monoclonal gammopathies are the disorders most frequently observed. The importance of a complete blood test for an etiological diagnosis has been stressed by Lang et al 5 . These authors determined the prevalence of each abnormal blood test result among a battery of 21 tests.…”

Section: In This Issuementioning

confidence: 99%

Challenges in the diagnosis and treatment of small fiber neuropathies

Valls‐Solé

2018

Arq. Neuro-Psiquiatr.

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S mall fiber neuropathies (SFN) are challenging at the level of the diagnosis, treatment and follow-up. Patients usually complain of severe pain, mostly in their feet, greatly affecting their quality of life, while the examiner finds no, or very few, clinical signs of peripheral neuropathy. Conventional electrodiagnostic testing does not give much additional information and, in idiopathic cases, routine blood tests do not show any abnormality. What to do in these cases? Symptomatic treatment is also often disappointing. Antiepileptic drugs, serotonin reuptake inhibitors and tricyclic antidepressants are the first line of treatment 1 . They may improve 30% in the rating of pain scores in about 30% of the patients, which is not much different from the effect of placebo. Being a little more aggressive with pharmacological treatment leads to opioids, which may produce side effects, and invasive treatments such as neural blockade, spinal cord stimulation, intrathecal medication, and neurosurgical interventions, which are elected by some patients impelled by the severity of their symptoms.On this topic, as in many others, a correct diagnosis is more than half the medical action to be taken. A thorough explanation to the patient about the nature of the problem, the origin of his/her symptoms, the benefits and side effects of the available medication and the reassurance of close follow-up are the most logical steps to complete the medical act. However, symptoms may continue in spite of all the care. It is in this situation that we need guidelines and consensus papers, like that by Gondim et al., in this issue 2 . Experience from other experts in the field becomes very handy when we, and our patients, need reassurance in the diagnosis. In fact, the syndromic diagnosis of SFN is not a difficult one to reach on the basis of clinical assessment. It is more difficult to have laboratory support of the diagnosis, as conventional electrodiagnostic methods are insufficient and more sophisticated equipment is not accessible to all 3 . It is even more difficult to reach an etiological diagnosis. The percentage of unknown causes of SFN remains at about 30% of the patients, in spite of advancement in the tools used for the diagnosis 4 . In those with known causes, impaired glucose metabolism, chronic inflammatory demyelinating polyneuropathy, and monoclonal gammopathies are the disorders most frequently observed. The importance of a complete blood test for an etiological diagnosis has been stressed by Lang et al.5 . These authors determined the prevalence of each abnormal blood test result among a battery of 21 tests. The most prevalent abnormalities were a high erythrocyte sedimentation rate and antinuclear antibodies, each present in 28% of 231 patients with skin biopsy confirmation of SFN. Apart from that, a number of other antibodies with elevated titers were found, which led the authors to suggest an association between SFN and dysimmunity.As Gondim et al.2 correctly point out in their manuscript, the use of relatively sophisti...

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

Cited by 39 publications

References 77 publications

Diagnosis and management of sensory polyneuropathy

Diagnosis and management of sensory polyneuropathy

Evidence of small-fiber neuropathy (SFN) in two patients with unexplained genital sensory loss and sensory urinary cystopathy

Challenges in the diagnosis and treatment of small fiber neuropathies

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