Oral Presentation 51st International Society for the Study of the Lumbar Spine Annual Meeting 2025

Painful symptoms and spine-specific activity limitations associated with dural ectasia in individuals with Marfan syndrome: a cross-sectional comparative study (MARFANLOMB) (115319)

Sébastien TROUSSIER 1 , Ludivine ELIAHOU 2 , Olivier MILLERON 2 , Guillaume JONDEAU 2 , François RANNOU 2 , Christelle Nguyen 2
  1. Service de Rééducation et de Réadaptation de l'Appareil Locomoteur et des Pathologies du Rachis, Hôpital Cochin, Paris, Île-de-France, France
  2. Université Paris Cité, PARIS, ÎLE-DE-FRANCE, France

INTRODUCTION

Marfan syndrome is a rare genetic disorder. Phenotypes are heterogeneous. Dural ectasia often occurs in individuals with Marfan syndrome and is the second most frequent manifestation after aortic root involvement. Dural ectasia can remain asymptomatic but, in some individuals, may be associated with a specific painful symptom pattern. We aimed 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 centre 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. Baseline characteristics and results of genetic testing for FBN1 mutations were retrieved from medical records.

 

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 higher in participants with dural ectasia (49% vs 26%, p=0.030 and 13% vs 0%, p=0.021, respectively). Mean leg pain intensity when walking and spine-specific activity limitations were numerically higher in participants with dural ectasia (20.5 [28.9] vs 9.6 [19.3] of 100 points, p=0.062 and 17.7 [14.6] vs 13.1 [13.9] of 100 points, p=0.161). We found no difference between the 2 groups for health-related quality of life.

 

DISCUSSION

Individuals with Marfan syndrome and dural ectasia, as compared to individuals with Marfan syndrome without dural ectasia, display a specific pattern of painful symptoms, including lower back pain and headache with upright posture.