Spinal manifestations of Ehlers-Danlos syndrome: a scoping review
OBJECTIVE
Since its initial description, the definition of Ehlers-Danlos syndrome (EDS) has notably changed. At present, it broadly refers to disorders of the connective tissue that are heritable and have similar features including joint hypermobility, dermal dysplasia, and vascular as well as internal organ fragility. There has been no comprehensive review of spinal manifestations of EDS in the recent literature. That has led to controversies in management protocols of this so-called orphan disease.
METHODS
The authors used the latest version of the EDS classification from 2017, in which 13 subtypes were recognized. EDS has 19 different causal genes, mainly associated with collagen synthesis. Of these, 5 subtypes have associated spinal manifestations.
RESULTS
Some of the spinal pathologies associated with EDS include Chiari malformation, craniocervical instability, kyphoscoliosis, segmental instability and kyphosis, spontaneous CSF leaks, Tarlov cyst syndrome, tethered cord, and problems associated with wound healing. Here, the authors briefly discuss the demographics, etiology, pathophysiology, clinical features, management strategies, and directions for further research for each of these manifestations.
CONCLUSIONS
EDS belongs to the group of orphan diseases, with the total patient population being below 200,000. Further research on spinal manifestations of EDS is the need of the hour to establish clinical practice guidelines and close the significant knowledge gaps that currently exist.
ABBREVIATIONS
AAI = atlantoaxial instability; CCF = craniocervical fusion; CCI = craniocervical instability; CM-I = Chiari malformation type I; CMS = cervicomedullary syndrome; CVJ = craniovertebral junction; CXA = clivoaxial angle; EDS = Ehlers-Danlos syndrome; GMO = Grabb-Mapstone-Oakes; HDCT = hereditary disorders of connective tissue; hEDS = hypermobile EDS; HHM = horizontal Harris measurement; PAL = posterior axial line; TC = Tarlov cyst; TCS = tethered cord syndrome.Illustrations from Hagan et al. (pp 843–850). © Albert Telfeian, published with permission.
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