Purpose <p>To compare frequencies and characteristics of painful symptoms, spine-specific activity limitations and health-related quality of life, between individuals with Marfan syndrome with dural ectasia, and those without.</p> Methods <p>We conducted a cross-sectional comparative study. All individuals with Marfan syndrome followed in a single center were screened. The presence of dural ectasia was assessed using CT-scan or magnetic resonance imaging. Endpoints were the frequencies and characteristics of painful symptoms, spine-specific activity limitations and health-related quality of life.</p> Results <p>Overall, 90 individuals were included: 86 (96%) had <i>FBN1</i> mutations, 55 (61%) had dural ectasia and 35 (39%) had not. Mean age was 39.3 (9.4) years, 45 (50%) were women and 80 (89%) had back pain. The frequencies of headache with upright posture and of pain in the lower back when coughing, laughing and/or sneezing were numerically higher in participants with dural ectasia (49% vs. 26% and 13% vs. 0%, respectively). We found no difference between the 2 groups for health-related quality of life.</p> Conclusion <p>Individuals with Marfan syndrome and dural ectasia, as compared to individuals with Marfan syndrome without dural ectasia, could display a specific pattern of painful symptoms, including lower back pain and headache with upright posture. However, none of the comparisons performed reached statistically significant difference.</p>

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Painful symptoms and spine-specific activity limitations associated with dural ectasia in individuals with Marfan syndrome: a cross-sectional comparative study (MARFANLOMB)

  • Sébastien Troussier,
  • Olivier Milleron,
  • François Rannou,
  • Ludivine Eliahou,
  • Guillaume Jondeau,
  • Christelle Nguyen

摘要

Purpose

To compare frequencies and characteristics of painful symptoms, spine-specific activity limitations and health-related quality of life, between individuals with Marfan syndrome with dural ectasia, and those without.

Methods

We conducted a cross-sectional comparative study. All individuals with Marfan syndrome followed in a single center were screened. The presence of dural ectasia was assessed using CT-scan or magnetic resonance imaging. Endpoints were the frequencies and characteristics of painful symptoms, spine-specific activity limitations and health-related quality of life.

Results

Overall, 90 individuals were included: 86 (96%) had FBN1 mutations, 55 (61%) had dural ectasia and 35 (39%) had not. Mean age was 39.3 (9.4) years, 45 (50%) were women and 80 (89%) had back pain. The frequencies of headache with upright posture and of pain in the lower back when coughing, laughing and/or sneezing were numerically higher in participants with dural ectasia (49% vs. 26% and 13% vs. 0%, respectively). We found no difference between the 2 groups for health-related quality of life.

Conclusion

Individuals with Marfan syndrome and dural ectasia, as compared to individuals with Marfan syndrome without dural ectasia, could display a specific pattern of painful symptoms, including lower back pain and headache with upright posture. However, none of the comparisons performed reached statistically significant difference.