Objectives: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder that may be associated with spinal abnormalities, but no comprehensive review exists on this subject. Therefore, this systematic review synthesized information specifically on spinal pathology in patients with LDS.
Methods: A systematic review of spinal pathology in LDS was conducted via PRISMA guidelines using the online databases PubMed/MEDLINE, Embase, and Scopus. Studies were included if they detailed spinal pathology in LDS with extractable dada. Studies were excluded if they did not involve spinal pathology in LDS, did not have extractable data, involved spinal pathology not directly due to LDS, were review articles, or were nonhuman studies. Study quality and risk of bias were evaluated using the Newcastle-Ottawa scale.
Results: A total of 21 studies encompassing 564 LDS patients were included. All articles were single-institution retrospective studies from between 2009-2024. The most common spinal pathologies were scoliosis (n = 154), cervical instability/deformity (n = 97), dural ectasia (n = 58), and spondylolisthesis (n = 32). Patients with cervical anomalies and spondylolisthesis required surgery at higher rates than for scoliosis. Spinal pathologies in LDS were often early-onset and progressive, with many patients failing conservative management. All studies were of limited quality and most had high risk of bias.
Conclusions: The most common spinal pathologies in LDS were scoliosis, cervical instability/deformity, dural ectasia, and spondylolisthesis. Most scoliosis cases did not require surgery. Cervical pathology and spondylolisthesis required surgery at higher rates in these patients, particularly when progressive and early-onset. There is a need for prospective, larger-cohort studies for these patients.
Keywords: Loeys-Dietz; cervical instability; dural ectasia; scoliosis; spinal pathology; spondylolisthesis.