Clinical characteristics of fibroblast growth factor receptor 3 antibody-related polyneuropathy: a retrospective study.
FGFR3 antibody
autoimmune neurological disorders
chronic inflammatory neuropathy
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
15
08
2019
accepted:
14
02
2020
pubmed:
19
2
2020
medline:
22
6
2021
entrez:
19
2
2020
Statut:
ppublish
Résumé
Autoantibodies are increasingly being used as a diagnostic biomarker of chronic inflammatory neuropathies. However, their role and associated clinical syndrome are not well defined. This retrospective chart review evaluated the clinical presentation, diagnostic workup and therapeutic responses in fibroblast growth factor receptor 3 (FGFR3) antibody-associated neuropathy. A total of 27 patients [14 men, aged 29-87 (65 ± 14) years] with positive FGFR3 antibody were included. Distal lower-extremity paresthesia (66%), unsteady gait (26%) and foot drop (11%) were common presenting symptoms. Symptom onset was acute in four (15%) cases. Distal lower-extremity weakness (mild in eight and severe in three patients) was the most frequent motor finding. Decreased distal sensation to pinprick (59%) and loss of vibration sensation (37%) were observed. Titer of FGFR3 ranged between 3100 and 30 000 (normal < 3000) with a mean of 10 688 ± 7284. Apart from the occasional association of other neuropathy-related autoantibodies, comprehensive neuropathy workup was otherwise unrevealing. Six patients had other autoimmune disease and seven patients had a history of cancer. Electromyography reflected sensorimotor neuropathy with mixed axonal and demyelinating features in 11 cases. Pure sensory neuropathy was noted in three patients. Demyelination was found in five of six nerve biopsies. Intravenous immunoglobulin response was observed in 8/10 treated patients. The FGFR3 antibody appears not to be restricted to sensory neuropathy only. Its role in the pathogenicity of chronic inflammatory neuropathies is not yet well established and, although there may be a role for immunotherapy, larger studies are warranted.
Sections du résumé
BACKGROUND AND PURPOSE
Autoantibodies are increasingly being used as a diagnostic biomarker of chronic inflammatory neuropathies. However, their role and associated clinical syndrome are not well defined.
METHODS
This retrospective chart review evaluated the clinical presentation, diagnostic workup and therapeutic responses in fibroblast growth factor receptor 3 (FGFR3) antibody-associated neuropathy.
RESULTS
A total of 27 patients [14 men, aged 29-87 (65 ± 14) years] with positive FGFR3 antibody were included. Distal lower-extremity paresthesia (66%), unsteady gait (26%) and foot drop (11%) were common presenting symptoms. Symptom onset was acute in four (15%) cases. Distal lower-extremity weakness (mild in eight and severe in three patients) was the most frequent motor finding. Decreased distal sensation to pinprick (59%) and loss of vibration sensation (37%) were observed. Titer of FGFR3 ranged between 3100 and 30 000 (normal < 3000) with a mean of 10 688 ± 7284. Apart from the occasional association of other neuropathy-related autoantibodies, comprehensive neuropathy workup was otherwise unrevealing. Six patients had other autoimmune disease and seven patients had a history of cancer. Electromyography reflected sensorimotor neuropathy with mixed axonal and demyelinating features in 11 cases. Pure sensory neuropathy was noted in three patients. Demyelination was found in five of six nerve biopsies. Intravenous immunoglobulin response was observed in 8/10 treated patients.
CONCLUSIONS
The FGFR3 antibody appears not to be restricted to sensory neuropathy only. Its role in the pathogenicity of chronic inflammatory neuropathies is not yet well established and, although there may be a role for immunotherapy, larger studies are warranted.
Substances chimiques
Autoantibodies
0
Receptor, Fibroblast Growth Factor, Type 3
EC 2.7.10.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1310-1318Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
© 2020 European Academy of Neurology.
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