Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy

Guasp, Mar; Kohler, Alejandro; Campolo, Michela; Casanova‐Mollá, Jordi; Valls‐Solé, Josep

doi:10.1016/j.cnp.2018.01.002

Cited by 3 publications

(3 citation statements)

References 21 publications

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“…Small-fiber nerve degeneration is a common heralding manifestation of ATTRv-PN with concomitant or subsequent involvement of larger-fiber nerves, leading to fatal outcomes [10,11]. Early detection of small-and large-fiber neuropathy might provide a critical clue guiding the decision to treat previously asymptomatic ATTRv-PN carriers to prevent irreversible nerve damage [12]. Intraepidermal nerve fiber (IENF) density on skin biopsy, a pathological signature of small-fiber degeneration, has been proven to serve as a marker of preclinical small-fiber neuropathy [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Early changes of nerve integrity in preclinical carriers of hereditary transthyretin Ala117Ser amyloidosis with polyneuropathy

Chiang

Yeh

Sung

et al. 2021

Euro J of Neurology

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Background and purpose Disease‐modifying therapies provide new horizons for hereditary transthyretin amyloidosis with polyneuropathy (ATTRv‐PN) to slow neuropathic progression. Initiating treatment at the earliest time requires biomarkers reflecting both small‐ and large‐fiber degeneration in carriers. Methods This study included examinations of pathology (intraepidermal nerve fiber [IENF] density), physiology (nerve conduction studies, autonomic function test, and nerve excitability), and psychophysics (thermal thresholds) in carriers to compare to healthy controls and asymptomatic diabetic patients. Results There were 43 carriers (44.2 ± 11.4 years, p.Ala117Ser in 42 carriers), 43 controls (43.4 ± 12.7 years) including 26 noncarrier families, and 50 asymptomatic diabetic patients (58.1 ± 9.5 years). Carriers had lower IENF densities than controls and similar densities as diabetic patients. Median nerve conduction parameters, especially distal motor latency, were the most frequent neurophysiological abnormality in carriers, could differentiate carriers from controls and diabetic patients, were correlated with IENF densities in carriers but not in controls and diabetic patients, and were correlated with nerve excitability parameters in carriers but not in controls. Fifteen carriers (34.9%) with electrophysiological evidence of median nerve entrapment at the wrist had lower IENF densities and more abnormal conduction parameters than carriers without. We defined nerve dysfunction index—the ratio of median distal motor latency to IENF density—which differentiated carriers from controls. Conclusions In late‐onset ATTRv‐PN carriers with predominant p.Ala117Ser, median conduction parameters were the most common neurophysiological abnormalities and served as surrogate signatures of small‐ and large‐fiber impairment. Combination of median distal motor latency and IENF density can reflect early neuropathy in carriers.

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Section: Introductionmentioning

confidence: 99%

Early changes of nerve integrity in preclinical carriers of hereditary transthyretin Ala117Ser amyloidosis with polyneuropathy

Chiang

Yeh

Sung

et al. 2021

Euro J of Neurology

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“…This lack of standardised diagnostic criteria for SFN may indeed have implications on our research in terms of the definition of SFN, since our study subjects were defined to have SFN solely based on their QST results [33,34]. We did not detect specific gene mutations for transthyretin familial amyloid polyneuropathy as a rarer underlying cause of SFN and LFN [35,36]. Neither were autoantibodies in SFN tested, for example antisulfatide and anti-plexin antibodies, which could be specific for small fibre neuropathies and may be a key pointer towards explaining the high frequency of small fibre polyneuropathies in our study [37].…”

Section: Discussionmentioning

confidence: 94%

Prevalence of polyneuropathies among systemic sclerosis patients and impact on health-related quality of life

Ivanova

Žukovs

Možeitoviča

et al. 2023

Neurol Neurochir Pol.

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Introduction. Systemic sclerosis (SSc) is a chronic rheumatic disease that affects multiple organ systems, including the peripheral nervous system. However, studies into the involvement of polyneuropathies (PNP) have shown inconsistent results. The aim of this study was to determine the prevalence of small (SFN) and large (LFN) fibre neuropathy among SSc patients and the impact on health-related quality of life (HRQoL). Material and methods.The study enrolled 67 patients with diagnosed SSc. The severity of neuropathic symptoms was evaluated using shortened and revised total neuropathy scoring criteria. Nerve conduction studies were used for LFN, and quantitative sensory testing was used to evaluate SFN. Neuropathic pain was evaluated using a Douleur Neuropathique en 4 questionnaire, and the severity of anxiety symptoms was assessed using a Generalised Anxiety Disorder-7 scale. The Health Assessment Questionnaire-Disability Index was used to assess HRQoL. Previous data on antinuclear autoantibodies (ANA) test results was obtained. Statistical analysis was performed using SPSS software.Results. LFN was diagnosed in 47.8% (n = 32/67) and SFN in 40.3% (n = 27/67) of the subjects. ANA positivity was not associated with the presence of LFN/SFN. The severity of neuropathic pain had a significant correlation with anxiety symptoms (r = 0.61, p < 0.001), the severity of neuropathy symptoms (r = 0.51, p < 0.001) and HRQoL (r = 0.45, p < 0.001). The severity of neuropathy symptoms correlated with HRQoL (r = 0.39, p = 0.001).Conclusions. We demonstrated that PNP are found in almost all SSc patients. Also, SFN is as common as LFN. Additionally, we found that the severity of neuropathy symptoms and neuropathic pain are both associated with a worse HRQoL.

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“…Nerve conduction studies, if obtained early on, may be normal if only small fibers are affected. 17,22 Furthermore, electrophysiologic abnormalities will become apparent as the disease progresses and affects larger, myelinated fibers. Misdiagnosis is ubiquitous.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Disease-Modifying Treatments for Transthyretin Amyloidosis

Tushak

Cox

Cei

et al. 2021

Journal of Cardiovascular Pharmacology

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:The transthyretin (TTR) amyloidoses result from misfolding of the protein leading to fibril formation and aggregation as amyloid deposits in predominantly the cardiovascular and nervous systems. Cardiac involvement can manifest as heart failure, arrhythmias, and valvular disease. Neurologic involvement can cause sensorimotor polyneuropathies, mononeuropathies, and dysautonomia. Previously, treatment has focused on management of these symptoms and disease sequelae, with a high rate of mortality due to the absence of disease-modifying therapies. In this article, we review novel treatments focusing on 3 mechanistic pathways: (1) silencing of the TTR gene to suppress production, (2) stabilizing of TTR tetramers to prevent misfolding, or (3) disrupting of existing TTR amyloid fibrils to promote reabsorption.

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Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy

Abstract: HighlightsDetecting signs of neuropathy helps therapeutic decisions in familial amyloidosis.Psychophysical thermal testing may be the only test showing damage in small fibers.Quantitative signs of improvement may remain a few years after liver transplantation.

Cited by 3 publications

References 21 publications

Early changes of nerve integrity in preclinical carriers of hereditary transthyretin Ala117Ser amyloidosis with polyneuropathy

Early changes of nerve integrity in preclinical carriers of hereditary transthyretin Ala117Ser amyloidosis with polyneuropathy

Prevalence of polyneuropathies among systemic sclerosis patients and impact on health-related quality of life

Disease-Modifying Treatments for Transthyretin Amyloidosis

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