Abstract
Carpal tunnel syndrome (CTS) is a common peripheral canalicular nerve entrapment syndrome in the upper extremities. The compression of or injury to the median nerve at the wrist as it passes through a space-limited osteofibrous carpal canal can cause CTS, resulting in hand pain and impaired function. The present paper reviews the literature on the prevalence, pathology, diagnosis, treatment, and risk factors of CTS in conjunction with the role of genetic factors in CTS etiology. CTS diagnosis is primarily linked with clinical symptoms; still, it is simplified by sophisticated approaches such as magnetic resonance imaging and ultrasonography. CTS symptoms can be ameliorated through conservative and surgical strategies. The exact CTS pathophysiology needs clarification. Genetic predispositions to CTS are augmented by various variants within genes; however, CTS etiology could include risk factors such as wrist movements, injury, and specific conditions (e.g., age, body mass index, sex, and cardiovascular conditions). The high prevalence of CTS diminishes the quality of life of its sufferers and imposes costs on health systems, hence the significance of research and clinical trials to elucidate CTS pathogenesis and develop novel therapeutic targets.
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Data Availability
All data reviewed during the present study are included in this published article.
Abbreviations
- CTS:
-
Carpal tunnel syndrome
- DNA:
-
Deoxyribonucleic acid
- RNA:
-
Ribonucleic acid
- MRI:
-
Magnetic resonance imaging
- US:
-
Ultrasonography
- UK:
-
United Kingdom
- NSAIDs:
-
Non-steroidal anti-inflammatory drugs
- OCTR:
-
Open carpal tunnel release
- ECTR:
-
Endoscopic carpal tunnel release
- COMP :
-
Cartilage oligomeric matrix protein
- ECM:
-
Extracellular matrix
- COL1A1 :
-
Collagen type I alpha 1 Chain
- COL5A1 :
-
Collagen Type V Alpha 1 Chain
- COL11A1 :
-
Collagen Type XI Alpha 1 Chain
- 3’-UTR:
-
3ʹ-Untranslated region
- COL12A1 :
-
Collagen type XII alpha 1 chain
- mRNA:
-
Messenger ribonucleic acid
- Sp1:
-
Specificity protein 1*
- ACAN :
-
Aggrecan
- BGN :
-
Biglycan
- MMPs :
-
Matrix metalloproteinases
- MMP10 :
-
Matrix Metallopeptidase 10
- MMP1 :
-
Matrix Metallopeptidase 1
- MMP3 :
-
Matrix Metallopeptidase 3
- MMP12 :
-
Matrix Metallopeptidase 12
- GST :
-
Glutathione S-transferases
- GSTM1 :
-
Glutathione S-Transferase Mu 1
- GSTT1 :
-
Glutathione S-Transferase Theta 1
- GSTP1 :
-
Glutathione S-Transferase Pi 1
- SERPINA1 :
-
Serpin Family A Member 1
- COMT :
-
Catechol-O-Methyltransferase
- IL-1β :
-
Interleukin 1 Beta)
- IL-6 :
-
Interleukin 6
- IL-6R :
-
Interleukin 6 Receptor
- VEGFA :
-
Vascular endothelial growth factor A
- (ACE) I/D :
-
Angiotensin-converting enzyme
- MCP-I :
-
Monocyte chemoattractant protein-I
- MIP-Iα :
-
Macrophage inflammatory protein-Iα
- SNPs:
-
Single-nucleotide polymorphisms
- GWAS:
-
Genome-wide association study
- UKB:
-
UK Biobank
- DIRC3 :
-
Disrupted In Renal Carcinoma 3
- lncRNA :
-
Long non-coding RNAs
- FAP II :
-
Familial amyloidotic polyneuropathy II
- IGFBP5 :
-
Insulin-Like Growth Factor Binding Protein 5
- TTR :
-
Transthyretin
- FCTS :
-
Familial carpal tunnel syndrome
- FBN2 :
-
Fibrillin 2
- ITGAL :
-
Integrin Subunit Alpha L
- ITGAM :
-
Integrin Subunit Alpha M
- RAB7 :
-
Ras-related protein Rab-7a
- RNF5 :
-
Ring Finger Protein 5
- PECAM1 :
-
Platelet And Endothelial Cell Adhesion Molecule 1
- VIL2 :
-
Villin-2
- TGFBR2 :
-
Transforming Growth Factor Beta Receptor 2
- NFKB1 :
-
Nuclear Factor Kappa B Subunit 1
- PRG5 :
-
Plasticity-related Gene 5
- CASP8 :
-
Caspase 8
- PIN :
-
PIN-FORMED
- HREV107 :
-
Phospholipase A2 group XVI
- CDH1 :
-
Cadherin 1
- CBX3 :
-
Chromobox 3
- WNT2 :
-
Wingless-Type MMTV Integration Site Family Member 2
- NGF :
-
Nerve Growth Factor
- COX-2 :
-
Cyclooxygenase-2
- ADAMTS17 :
-
ADAM metallopeptidase with thrombospondin type 1 motif, 17
- ADAMTS10 :
-
ADAM metallopeptidase with thrombospondin type 1 motif, 10
- EFEMP1 :
-
EGF Containing Fibulin Extracellular Matrix Protein 1
- PLA2G2F :
-
Phospholipase A2 group IIF
- PLA2G4F :
-
Phospholipase A2 group IVF
- PLA2G4D:
-
Phospholipase A2, group IVD
- PLA2G3:
-
Phospholipase A2 group III
- IGF-1:
-
Insulin-Like Growth Factor 1
- PLA2G4E:
-
Phospholipase A2, group IVE
- NF-Kb:
-
Nuclear factor kappa B
- SSCTs:
-
Subsynovial connective tissues
- TGF:
-
Transforming growth factor
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This work was funded by a research grant from Bam University of Medical Sciences (Grant No. 4010000028) and the Research Deputyship of Rajaie Cardiovascular Medical and Research Center.
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MM contributed to concept, database search, and revision of the first draft, figures, and tables. MS contributed to database search and the writing of the first draft. AGH contributed to database search and the writing of the first draft. MO contributed to concept, the writing of the review, and supervising and revising the whole draft, figures, and tables. All the authors have reviewed the final manuscript.
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Malakootian, M., Soveizi, M., Gholipour, A. et al. Pathophysiology, Diagnosis, Treatment, and Genetics of Carpal Tunnel Syndrome: A Review. Cell Mol Neurobiol 43, 1817–1831 (2023). https://doi.org/10.1007/s10571-022-01297-2
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DOI: https://doi.org/10.1007/s10571-022-01297-2