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Spinal Pathologies Associated With Loeys-Dietz Syndrome: A Systematic Review.

Alexander T Yahanda1, Alan C Braverman2, Camilo A Molina1

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Summary
This summary is machine-generated.

Loeys-Dietz syndrome (LDS) commonly causes scoliosis, cervical instability, dural ectasia, and spondylolisthesis. Cervical issues and spondylolisthesis often require surgery, unlike most scoliosis cases in LDS patients.

Keywords:
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Area of Science:

  • Genetics and rare diseases
  • Orthopedics and spinal surgery
  • Connective tissue disorders

Background:

  • Loeys-Dietz syndrome (LDS) is a rare genetic disorder affecting connective tissues.
  • Spinal abnormalities are recognized complications of LDS, but comprehensive reviews are lacking.
  • Understanding spinal pathology in LDS is crucial for patient management.

Purpose of the Study:

  • To systematically review and synthesize existing literature on spinal pathology in Loeys-Dietz syndrome.
  • To identify the most prevalent spinal conditions associated with LDS.
  • To analyze treatment outcomes and surgical intervention rates for spinal pathologies in LDS.

Main Methods:

  • Systematic review adhering to PRISMA guidelines.
  • Searches conducted in PubMed/MEDLINE, Embase, and Scopus databases.
  • Inclusion criteria focused on studies detailing spinal pathology in LDS with extractable data.
  • Newcastle-Ottawa scale used for quality and bias assessment.

Main Results:

  • 21 studies involving 564 LDS patients were analyzed.
  • Common spinal pathologies included scoliosis (n=154), cervical instability/deformity (n=97), dural ectasia (n=58), and spondylolisthesis (n=32).
  • Cervical anomalies and spondylolisthesis had higher surgical rates compared to scoliosis; many cases were early-onset, progressive, and refractory to conservative treatment.
  • Included studies were of limited quality with high risk of bias.

Conclusions:

  • Scoliosis, cervical instability/deformity, dural ectasia, and spondylolisthesis are the primary spinal manifestations of LDS.
  • While most scoliosis cases are managed conservatively, cervical pathology and spondylolisthesis frequently necessitate surgical intervention, especially when early-onset and progressive.
  • High-quality, prospective, larger-cohort studies are needed to better understand and manage spinal pathology in Loeys-Dietz syndrome.