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

Abstract

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.