AB1523 CLINICAL SIGNS AND ACTIVITY LIMITATIONS ASSOCIATED WITH DURAL SAC ECTASIA IN INDIVIDUALS WITH MARFAN DISEASE: A CROSS-SECTIONAL CASE-CONTROL STUDY

Abstract

BackgroundDural ectasia often occurs in individuals with Marfan disease. Fibrillin-1, a matrix component of microfibrils, has been hypothesized to play a role in the circulation of cerebrospinal fluid [1]. Modifications to the circulation of cerebrospinal fluid in individuals with Marfan disease may lead to an increased pressure in the lumbosacral spine and a decreased pressure in the cephalic extremity.ObjectivesWe hypothesized that individuals with Marfan disease and dural ectasia, as compared to individuals with Marfan disease without dural ectasia, may display a specific pattern of painful symptoms and spine-specific activity limitations [2]. The aim of our study was to compare: the frequencies and characteristics of painful symptoms, and the intensity of back and leg pain, spine-specific activity limitations and health-related quality of life, between individuals with Marfan disease with and without dural ectasia.MethodsWe conducted a single-centred cross-sectional comparative study. All individuals with Marfan disease followed in the department of cardiology of Bichat hospital (Paris, France) and recorded in the computerized database of the department from inception to January 2022 were systematically screened. Inclusion criteria were: adults ≥ 18 and ≤ 55 years; fulfilling Ghent nosology; FBN1 mutations confirmed by genetic testing; and CT-scan or magnetic resonance imaging available. Non-inclusion criteria were: history of lumbar surgery < 1 year; specific back pain (i.e. tumor, infection, traumatism, fracture, inflammatory rheumatic disease); individuals unable to speak, read and write French. Individuals were considered to have dural ectasia or not to have dural ectasia based on CT-scan or magnetic resonance imaging, according to Ahn and colleagues’ criteria [3]. All self-administered questionnaires collected between 1/28/2022 and 9/12/2022 were included in the analysis.Results247 individuals were eligible to participate and were contacted by mail. 90 (36%) individuals accepted to participate and were included: 55 (61%) had dural ectasia and 45 (39%) did not(Figure 1). Mean participants’ age was 39.3 (9.4) years and 45 (50%) were women. 80 (89%) participants had back pain, most often located in the lower back, 65 (71%) a history of scoliosis and 8 (9%) a history of spine surgery. 15 (17%) participants had a history of high blood pressure, 84 (93%) a dilation and/or dissection of the ascending aorta, and 52 (58%) an aortic surgery. The 3 most often reported painful symptoms were increased pain in the lower back with upright posture in 53 (58%) participants, increased headache with upright posture in 36 (40%) and increased pain in the lower back when walking in 31 (34%). The frequencies of increased headache with upright posture and of increased pain in the lower back when coughing, laughing and/or sneezing were numerically higher in participants with than without dural ectasia (49% vs 26% and 13% vs 0%, respectively), without reaching statistical significance (p-value=0.030 and p-value=0.021, respectively)(Table 1).ConclusionIndividuals with Marfan disease and dural ectasia, as compared to those without dural ectasia, display a specific pattern of painful symptoms, including lower back pain and headache with upright posture. We detected too a difference in favor of a link between ectasia of the dural sac and abundance in ascending aortic surgery (64% vs 49%).