AB0184 sensory profiling in classical ehlers-danlos syndrome: evidence from a case-control study reveals pain characteristics, sensory changes and impaired pain modulation
Abstract
The Ehlers-Danlos syndromes (EDS) are a paradigm group of rare heritable connective tissue disorders caused by pathogenic defects in genes involved in biosynthesis, fibrillogenesis, and/or supramolecular organization of collagen fibrils in the extracellular matrix (ECM). Joint hypermobility, skin hyperextensibility, abnormal wound healing and easy bruising are among the cardinal clinical features. The classical EDS type, caused by caused by defects in type V or rarely type I collagen, is the most prevalent genetically elucidated EDS type [1].(Chronic) pain is highly prevalent in individuals with EDS and is one of the foremost reasons these individuals seek medical attention. There is a high use of analgesics, surgery, and physical therapy but these treatment modalities often bring only modest relief at best, and some are associated with unwanted side effects. Few studies, almost exclusively conducted in the molecularly unexplained hypermobile EDS type, have brought limited evidence for neuropathic pain and decreased intra-epidermal nerve fiber density. Interestingly, functional and structural abnormalities of the nervous system and associated pain-related behaviors have also been described in mouse models of EDS [2]. Comprehensive human studies on pain prevalence and pain mechanisms in molecularly solved EDS types are however currently not available, thereby representing a major gap in the study of pain in EDS.The primary aim of this cross-sectional study was to identify the…
How strong is the evidence?
Evidence Hub reads this as a case-control, done in people. Its evidence level is 4 of 5 (Low · observational). Observational designs can show an association but not prove cause.
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