small fibre neuropathy
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2021 ◽  
Vol 429 ◽  
pp. 118618
Author(s):  
Kaalindi Misra ◽  
Silvia Santoro ◽  
Andrea Zauli ◽  
Margherita Marchi ◽  
Erika Salvi ◽  
...  

2021 ◽  
Vol 10 (18) ◽  
pp. 4168
Author(s):  
Jonathan Niranjan Rajan ◽  
Katharine Ireland ◽  
Richard Johnson ◽  
Karolina M. Stepien

Fabry disease is a progressive X-linked lysosomal storage disease caused by a mutation in the GLA gene, encoding the lysosomal hydrolase α-galactosidase A. The consequent reduced enzyme activity results in the toxic accumulation of glycosphingolipids, particularly globortriaosylceramide (Gb3 or GL3), in blood vessels, renal epithelia, myocardium, peripheral nervous system, cornea and skin. Neuropathic pain is the most common manifestation of Fabry disease and can be extremely debilitating. This often develops during childhood and presents with episodes of burning and sharp pain in the hands and feet, especially during exercise and it is worse with increased heat or fever. It is thought to be due to ischaemic injury and metabolic failure, leading to the disruption of neuronal membranes and small fibre neuropathy, caused by a reduced density of myelinated Aδ and unmyelinated C-fibres and alterations in the function of ion channels, mediated by Gb3 and lyso Gb3. It is important to confirm small fibre neuropathy before any Fabry disease treatment modality is considered. There is a clinical need for novel techniques for assessing small fibre function to improve detection of small fibre neuropathy and expand the role of available therapies. The current Fabry disease guidelines are in favour of pharmacological management as the first-line treatment for pain associated with Fabry disease. Refractory cases would benefit from a rehabilitation approach with interdisciplinary input, including medical, physiotherapy and psychological disciplines and including a Pain Management Programme.


Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 787
Author(s):  
Anna K. Szewczyk ◽  
Anna Jamroz-Wiśniewska ◽  
Konrad Rejdak

Background and Objectives: Correct assessment and a multidisciplinary approach appear to be extremely important in preventing peripheral neuropathy and its complications. The purpose of this study was to find the correlations and dissimilarities between different types of peripheral neuropathy, the occurrence of pain, and laboratory results. Materials and Methods: This retrospective study assessed 124 patients who were hospitalized in our neurology department due to various types of sensory or motor disturbances. The patients were eventually diagnosed with peripheral neuropathy, based on the electrophysiological study, anamnesis, physical examination, and laboratory results. The whole group was subjected to statistical analysis. Results: The mean age of patients was over 56 years, with a slight woman predominance. A statistically significant (p < 0.05) relationship between the place of residence and gender was seen, where more men than women live in the rural area, while more women than men live in the urban area. Most often we observed symmetric, sensorimotor, demyelinating, inflammatory, and chronic neuropathy. More than 40% of patients reported pain. A statistically significant correlation between the evolution/severity and the occurrence of pain was seen in subacute type (p < 0.05) and small fibre neuropathy (p < 0.01). Conclusions: A higher incidence of peripheral neuropathy in middle-aged people will become essential in the aging society with lifestyle and chronic disorders. Peripheral neuropathy is slightly more common in women than men and its occurrence may be influenced by work performed or internal and external factors. In the study group, more than 40% of patients reported pain, therefore the pain measurement for each patient should be implemented and repeated at every visit. An assessment of sodium level and, in women, markers of neuroinflammation level in the various types of peripheral neuropathy may be an interesting direction for the future.


2021 ◽  
Author(s):  
Lorena M. Bitzi ◽  
Dirk Lehnick ◽  
Einar P. Wilder‐Smith

2021 ◽  
Vol 12 ◽  
Author(s):  
Akihiko Ando ◽  
Michiaki Miyamoto ◽  
Naoko Saito ◽  
Kazuhiko Kotani ◽  
Hideki Kamiya ◽  
...  

Diabetic polyneuropathy (DPN) and endothelial dysfunction are prevalent complications of diabetes mellitus. Currently, there are two non-invasive markers for endothelial dysfunction: flow-mediated dilation and reactive hyperaemia peripheral arterial tonometry (RH-PAT). However, the relationship between diabetic small fibre neuropathy and macroangiopathy remains obscure thus far. Corneal confocal microscopy (CCM) has emerged as a new diagnostic modality to assess DPN, especially of small fibre. To clarify the relationship between diabetic small fibre neuropathy and vascular dysfunction, we aimed to determine the functions of peripheral nerves and blood vessels through clinical tests such as nerve conduction study, coefficient of variation in the R-R interval, CCM, and RH-PAT in 82 patients with type 2 diabetes. Forty healthy control subjects were also included to study corneal nerve parameters. Correlational and multiple linear regression analyses were performed to determine the associations between neuropathy indices and markers for vascular functions. The results revealed that patients with type 2 diabetes had significantly lower values for most variables of CCM than healthy control subjects. RH-PAT solely remained as an explanatory variable significant in multiple regression analysis for several CCM parameters and vice versa. Other vascular markers had no significant multiple regression with any CCM parameters. In conclusion, endothelial dysfunction as revealed by impaired RH-PAT was significantly associated with CCM parameters in patients with type 2 diabetes. This association may indicate that small fibre neuropathy results from impaired endothelial dysfunction in type 2 diabetes. CCM parameters may be considered surrogate markers of autonomic nerve damage, which is related to diabetic endothelial dysfunction. This study is the first to report the relationship between corneal nerve parameter as small fibre neuropathy in patients with type 2 diabetes and RH-PAT as a marker of endothelial dysfunction.


2021 ◽  
Author(s):  
Chenxi Li ◽  
Weimin Wang ◽  
Wenyu Ni ◽  
Yu Jin ◽  
Simin Guo ◽  
...  

Abstract BackgroundThe clinical characteristics and outcomes of small fibre neuropathy (SFN) in Chinese patients with type 2 diabetes have not been thoroughly described, and we investigated metabolic and neurological indexes and the prognosis of type 2 diabetic patients based on skin biopsy. MethodsThirty-four healthy Chinese volunteers were recruited for skin biopsy to establish the reference range of intraepidermal nerve fibre density (IENFD). Eighty-nine patients with type 2 diabetes from the Department of Endocrinology at Nanjing Drum Tower Hospital between December 2015 and April 2020 were included in the final study. Metabolic and neurological indexes were evaluated at baseline. Diabetic cardiovascular autonomic function was tested through cardiovascular autonomic reflex tests (CARTs). Seventeen pure SFN subjects and 9 mixed diabetic polyneuropathy (DPN) subjects were reassessed after the follow-up. ResultsLevels of HbA1c and postprandial blood glucose were lower (P=0.005 and P=0.041, respectively), while postprandial C-peptide and insulin were higher (P=0.001 and P=0.019, respectively) in the pure SFN group than in the mixed DPN group. Regarding the CARTs, the mixed DPN group obtained the highest score, indicating the worst cardiovascular autonomic neuropathy (CAN). Among the four CART items, postural BP change was lower while deep breathing max-min was higher in the pure SFN group than in the mixed DPN group (P=0.023 and P=0.040, respectively). A partial correlation showed that there was a negative correlation between IENFD of the distal leg and CART scores (r=-0.513, P=0.001) after adjusting for age and duration of diabetes. Only vitamin B12 (p=0.028) and motor nerve conduction velocity (MCV) of the common peroneal nerve (p=0.045) were increased in the 17 patients with pure SFN after the follow-up. However, MCVs of the common peroneal nerve (p=0.025) and tibial nerve (p=0.047) were decreased at the final visit in the mixed DPN group. ConclusionsBetter islet function and cardiovascular autonomic function were observed in patients with pure SFN compared with mixed DPN. CART scores were negatively correlated with IENFD in the distal leg even after adjusting for age and duration of diabetes. The metabolic and neurological indexes remained relatively stable in the follow-up of pure SFN subjects.


2020 ◽  
Vol 315 ◽  
pp. e162
Author(s):  
Z. Iqbal ◽  
S. Azmi ◽  
M. Ferdousi ◽  
A. Kalteniece ◽  
S. Adam ◽  
...  

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