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. 2025 May 31.
doi: 10.1007/s00586-025-08911-z. Online ahead of print.

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

Sébastien Troussier  1 , Olivier Milleron  2   3 , François Rannou  1   4   5 , Ludivine Eliahou  2   3 , Guillaume Jondeau  2   4   3 , Christelle Nguyen  6   7   8
Affiliations

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

Sébastien Troussier et al. Eur Spine J. .

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.

Keywords: Disability; Dural ectasia; Health-related quality of life; Lower back pain; Marfan syndrome.

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Conflict of interest statement

Declarations. Ethical approval: All methods were carried out in accordance with relevant guidelines and regulations. Our experimental protocol was approved by our ethics committee (CPP Sud-Est VI, Clermont-Ferrand, n° 2021-A00654-37) on December 14, 2021. Consent to participate: Informed written consent was obtained from all participants. Consent for publication: All authors listed provided final written approval of the version to be published and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Additional declarations for articles in life science journals that report the results of studies involving humans and/or animals: Not applicable. Competing interests: None.

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