Date of Defense

12-10-2021

Date of Graduation

12-2021

Department

Biological Sciences

First Advisor

John Spitsbergen

Second Advisor

Jacqueline Eng

Third Advisor

Alberto Cintron-Colon

Abstract

Ehlers Danlos Syndrome is a group of heritable loose connective tissue disorders with 13 distinguished subtypes. The hypermobile type of Ehlers Danlos Syndrome (hEDS) is the most common subtype and is caused by a genetic mutation that leads to defective collagen fibrils. This leads to joint instability and hypermobility, skin elasticity, widespread pain, fatigue, and generalized tissue fragility. Chronic pain is reported to be a symptom in as high as 92% of the hEDS population (Voermans et al., 2010); despite this prevalence, there is a significant lack of research, awareness, and treatment standardization regarding pain in hEDS. This literature review aims to investigate the mechanisms of pain hypothesized to be the root of increased pain prevalence in hEDS patients, provide an overview of additional factors that contribute to pain in hEDS, as well as to investigate the efficacies of the therapies which are most often suggested for pain management in these patients. This review covers the three main suggested sources of pain in hEDS: musculoskeletal trauma, central sensitization, and neuropathy. Based on research findings, it is probable that all three of these pain mechanisms play a role in the manifestation of chronic pain in hEDS patients. Fatigue, proprioception and balance deficits, kinesiophobia, depression and anxiety, and deconditioning are additional factors that contribute to the progression of chronic pain. Therapies found to be most successful in hEDS patients in the treatment include targeted physical therapy, myofascial trigger point injections, opioids, ketamine, and medicinal marijuana, with surgery proving to be an effective treatment in limited scenarios. Despite this list of effective treatments, survey studies suggest that those who seek professional treatment present with more complaints of functional impairment in their daily lives than those who do not (Rombaut et al., 2011). This highlights the need for further research surrounding effective treatments as well as a standardized treatment guide for physicians treating patients with hEDS.

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Honors Thesis-Open Access

Honors Thesis Defense, Sydney Collins (1).pdf (1579 kB)
Defense Presentation

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