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Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

Marlies Colman (UGent) , Delfien Syx (UGent) , Inge De Wandele (UGent) , Lies Rombaut (UGent) , Deborah Wille (UGent) , Zoë Malfait (UGent) , Mira Meeus (UGent) , Anne-Marie Malfait (UGent) , Jessica Van Oosterwijck (UGent) and Fransiska Malfait (UGent)
(2023)
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Abstract
<jats:title>Abstract</jats:title><jats:p>Pain is one of the most important, yet poorly understood complaints in heritable connective tissue disorders (HCTD) caused by monogenic defects in extracellular matrix molecules. This is particularly the case for Ehlers-Danlos syndromes (EDS), paradigm collagen-related disorders. This study aimed to identify the pain signature and somatosensory characteristics in the rare classical type of EDS (cEDS) caused by defects in type V or rarely type I collagen. We used static and dynamic quantitative sensory testing and validated questionnaires in 19 individuals with cEDS and 19 matched controls.</jats:p><jats:p>Individuals with cEDS reported clinically relevant pain/discomfort (VAS ≥5/10 in 32% for average pain intensity the past month) and worse health -related quality of life. Altered sensory profile was found in the cEDS group with higher (p=0.04) detection thresholds for vibration stimuli at the lower limb indicating hypoesthesia, reduced thermal sensitivity with more (p&lt;0.001) paradoxical thermal sensations, and hyperalgesia with lower pain thresholds to mechanical (p&lt;0.001) stimuli at both the upper and lower limbs and to cold (p=0.005) stimulation at the lower limb. Using a parallel conditioned pain paradigm, the cEDS group showed significantly smaller antinociceptive responses (p-value between 0.005 and 0.046) suggestive of impaired endogenous central pain modulation.</jats:p><jats:p>In conclusion, Individuals with cEDS report chronic pain and worse health-related quality of life, and present altered somatosensory perception. This study is the first to systematically investigate pain and somatosensory characteristics in a genetically defined HCTD and provides interesting insights on the possible role of the ECM in the development and persistence of pain.</jats:p>

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MLA
Colman, Marlies, et al. Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation. Cold Spring Harbor Laboratory, 2023, doi:10.1101/2023.02.24.23286404.
APA
Colman, M., Syx, D., De Wandele, I., Rombaut, L., Wille, D., Malfait, Z., … Malfait, F. (2023). Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation. https://doi.org/10.1101/2023.02.24.23286404
Chicago author-date
Colman, Marlies, Delfien Syx, Inge De Wandele, Lies Rombaut, Deborah Wille, Zoë Malfait, Mira Meeus, Anne-Marie Malfait, Jessica Van Oosterwijck, and Fransiska Malfait. 2023. “Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation.” Cold Spring Harbor Laboratory. https://doi.org/10.1101/2023.02.24.23286404.
Chicago author-date (all authors)
Colman, Marlies, Delfien Syx, Inge De Wandele, Lies Rombaut, Deborah Wille, Zoë Malfait, Mira Meeus, Anne-Marie Malfait, Jessica Van Oosterwijck, and Fransiska Malfait. 2023. “Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain Modulation.” Cold Spring Harbor Laboratory. doi:10.1101/2023.02.24.23286404.
Vancouver
1.
Colman M, Syx D, De Wandele I, Rombaut L, Wille D, Malfait Z, et al. Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation. Cold Spring Harbor Laboratory; 2023.
IEEE
[1]
M. Colman et al., “Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation.” Cold Spring Harbor Laboratory, 2023.
@misc{01GVR6Z5T8TK7FCN5ZB7ZFYRCR,
  abstract     = {{<jats:title>Abstract</jats:title><jats:p>Pain is one of the most important, yet poorly understood complaints in heritable connective tissue disorders (HCTD) caused by monogenic defects in extracellular matrix molecules. This is particularly the case for Ehlers-Danlos syndromes (EDS), paradigm collagen-related disorders. This study aimed to identify the pain signature and somatosensory characteristics in the rare classical type of EDS (cEDS) caused by defects in type V or rarely type I collagen. We used static and dynamic quantitative sensory testing and validated questionnaires in 19 individuals with cEDS and 19 matched controls.</jats:p><jats:p>Individuals with cEDS reported clinically relevant pain/discomfort (VAS ≥5/10 in 32% for average pain intensity the past month) and worse health -related quality of life. Altered sensory profile was found in the cEDS group with higher (p=0.04) detection thresholds for vibration stimuli at the lower limb indicating hypoesthesia, reduced thermal sensitivity with more (p&lt;0.001) paradoxical thermal sensations, and hyperalgesia with lower pain thresholds to mechanical (p&lt;0.001) stimuli at both the upper and lower limbs and to cold (p=0.005) stimulation at the lower limb. Using a parallel conditioned pain paradigm, the cEDS group showed significantly smaller antinociceptive responses (p-value between 0.005 and 0.046) suggestive of impaired endogenous central pain modulation.</jats:p><jats:p>In conclusion, Individuals with cEDS report chronic pain and worse health-related quality of life, and present altered somatosensory perception. This study is the first to systematically investigate pain and somatosensory characteristics in a genetically defined HCTD and provides interesting insights on the possible role of the ECM in the development and persistence of pain.</jats:p>}},
  author       = {{Colman, Marlies and Syx, Delfien and De Wandele, Inge and Rombaut, Lies and Wille, Deborah and Malfait, Zoë and Meeus, Mira and Malfait, Anne-Marie and Van Oosterwijck, Jessica and Malfait, Fransiska}},
  language     = {{eng}},
  publisher    = {{Cold Spring Harbor Laboratory}},
  title        = {{Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation}},
  url          = {{http://doi.org/10.1101/2023.02.24.23286404}},
  year         = {{2023}},
}

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