Marfan Syndrome
Conditions
Keywords
Marfan's disease, Dural ectasia, Clinical signs, Intracranial hypotension, Low back pain, Activity limitation
Brief summary
Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls). 1. / Frequency of orthostatic headaches 2. / Frequency of low back pain due to orthostasis 3. / Frequency of low back pain during Vasalva maneuvers 4. / Frequency of lumbar claudication 5. / Frequency of root claudication Secondary outcomes are to compare activity limitations, quality of life and intensity of low back and radicular pain between Marfan patients with dural sac ectasia (cases) and those without (controls). 1. / Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) 2. / Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) 3. / Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) 4. / Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) 5. / Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)
Detailed description
Marfan's disease is a rare condition. Clinical phenotypes are heterogeneous. Among the abnormalities of the spine, dural ectasia is common with a prevalence of 66%. This is a major sign of Ghent's diagnostic criteria. To our knowledge, the clinical and functional signs associated with dural sac ectasia have never been described with precision. Only a few uncontrolled case series have been published. This is the case of the study by Foran and colleagues published in the American Journal of Genetics in 2005 which included 22 patients with Marfan disease with dural ectasia questioned about their symptoms and quality of life. We hypothesize the existence of a clinical and functional spinal phenotype specific to dural ectasia in patients with Marfan disease.
Interventions
OTHERQuestionnaire
Questionnaire
Sponsors
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 55 Years
Healthy volunteers
No
Inclusion criteria
* Marfan disease according to the Ghent criteria revised in 2010 * Patients followed at the CNMR in Bichat * Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) * Patient not opposing the research * Mastery of the French language
Exclusion criteria
* History of lumbar surgery \<1 year * Specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism) * Inability to write, read or speak French * Cognitive or behavioral problems making assessment impossible * Patients receiving AME * Patients under tutorship or curatorship
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of spinal symptoms | Inclusion | Frequency of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls) : 1. / Frequency of orthostatic headaches 2. / Frequency of low back pain due to orthostasis 3. / Frequency of low back pain during Vasalva maneuvers 4. / Frequency of lumbar claudication 5. / Frequency of root claudication |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Self-administered digital scale (0 = no pain and 100 = maximum pain) | Inclusion | Intensity of low back pain between Marfan patients with dural ectasia (cases) and those without (controls) : average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) |
| Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) | Inclusion | Limitations between Marfan patients with dural ectasia (cases) and those without (controls) : activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) |
| 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) | Inclusion | Quality of life between Marfan patients with dural ectasia (cases) and those without (controls) : physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) |
Countries
France
Outcome results
None listed