The surgical management of spinal disorders in lysosomal storage diseases: a systematic review

Abstract

Background: The skeletal manifestations of lysosomal storage diseases (LSDs) are largely refractory to available therapeutic modalities. Consequently, there is an increasing need to manage their spinal deformities. The aim was to perform a systematic review to answer the questions, "What are the reported indications for surgery for spinal deformity in patients with LSDs?" and "what are the published surgical management strategies?". Methods: Articles that made reference to at least one LSD, a spinal abnormality and surgical management were included. Extracted study data included: study type, sample size, methodology and year of publication. The following clinical information was collected: demographics, spinal abnormalities, and surgical indications, details and outcomes. Results: Thirty-seven articles were included, with 23 describing surgical management of craniocervical manifestations seen in mucopolysaccharidosis. Radiological evidence of myelopathy at the craniocervical junction and/or progressive clinical neurological compromise were accepted as surgical indications. Prophylactic surgery was proposed by some authors. The recommended surgical technique and whether to stabilise and/or decompress varied between articles and LSD types. Twenty-one articles discussed thoracolumbar pathology, including thoracolumbar kyphosis and scoliosis. Radiological severity, progression of deformity, and presence of neurological deterioration were discussed as surgical indications. Most papers recommended circumferential arthrodesis via combined anterior and posterior approaches. Conclusion:The surgical management of spinal disorders in LSDs remains controversial. Centres managing these patients should be encouraged to have a standardised system of reporting outcomes, to facilitate recommendations for management of the spinal manifestations.

Advances in therapies for neurological lysosomal storage disorders

“…LSDs displaying a neurological phenotype are often the most arduous to treat since any therapeutic or drug delivery intervention needs to overcome the protective blood–brain barrier (BBB) in order to deliver significant impact on treating disease burden in the brain. In addition to this, it is important to also highlight the difficulties in treating skeletal abnormalities and joint disease prevalent in LSDs, with spine and hip deformities in particular causing significant complications 11–13 . There is currently a pressing unmet clinical need to develop more efficacious therapeutic interventions to treat these severe disorders.…”

“…In addition to this, it is important to also highlight the difficulties in treating skeletal abnormalities and joint disease prevalent in LSDs, with spine and hip deformities in particular causing significant complications. [11][12][13] There is currently a pressing unmet clinical need to develop more efficacious therapeutic interventions to treat these severe disorders.…”