Spinal manifestations of Ehlers-Danlos syndrome: a scoping review

Abstract

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.

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review

“…This could explain the high prevalence of sprains and subluxation/dislocations observed amongst hEDS, aEDS, spEDS, and cEDS cases. Furthermore, it is also these ECM/cytoskeletal deficiencies that contribute to weak spinal muscles, resulting in a lack of spinal column support and manifesting with spinal deformities as noted in kEDS, spEDS and cEDS cases ( 17 ).…”

Presentation and physical therapy management of upper cervical instability in patients with symptomatic generalized joint hypermobility: International expert consensus recommendations

“…After the patient interview and physical examination, the therapist performs an evaluation, and provides a diagnosis, therefore need to be considered as alternatives or as co-morbidities (1,6,39,40). Differentiating among these can be challenging, may require diagnostic imaging, and is beyond the scope of this article.…”

“…On the other hand, patients waiting for a neurosurgical consultation might benefit from wearing a brace 24/7. A neurosurgeon specializing in S-GJH/UCI recommends patients perform gentle isometric resistance in the brace for a few minutes TABLE 10 Differential diagnoses that should be considered (1,6,39,40).…”

“…Signs and symptoms of AOI and AAI overlap and, while they can be differentiated radiologically ( 1 , 5 ), it is not always possible to differentiate them in the physical therapy clinic. Although physical/physiotherapists are likely to treat these patients, there are no published guidelines for safe, conservative assessment or management of UCI in this population ( 1 , 5 , 6 ). Diagnosis based on history and physical exam can be challenging as presentation can be quite variable between patients and even in the same patient over time, ranging from mild discomfort to severe disability and objective neurological signs.…”

“…UCI in S-GJH has been the topic of several recent publications discussing imaging studies and surgical management. This recent literature asserts that UCI in S-GJH is an important condition to recognize, and there is a need for consensus-based recommendations, practice guidelines and care pathways for patients ( 2 , 5 , 6 , 12 ). None of the recent publications address physical therapy assessment and conservative management for this population.…”