Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease
Condition: Marfan Syndrome
MeSH terms: Marfan Syndrome; Arachnodactyly; Dilatation, Pathologic
Study type: Observational

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.
    

Intervention name(s): Questionnaire
Intervention type(s): Other
Intervention description(s): Questionnaire
Observational model: Case-Control
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        Patients screened and selected at the CNMR at Bichat Hospital will receive a letter
        containing the information note and a self-questionnaire to complete.

        Patients can reach Dr Troussier by phone or email to ask any questions. Patients will
        return a copy of the completed briefing note and self-questionnaire by post.

        In the event of the presence of dural sac ectasia, patients will also be asked to send in
        the reply letter a copy of an imaging report, MRI or lumbar CT or TAP, or failing that an
        account- medical report mentioning this presence.
      
Keywords: Marfan's disease; Dural ectasia; Clinical signs; Intracranial hypotension; Low back pain; Activity limitation