Exploring medical comorbidities and surgical history of individuals presenting with hypermobile Ehlers-Danlos syndrome: a retrospective chart review
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Abstract
Ehlers-Danlos syndrome (EDS) is a group of rare conditions caused by genetic defects to the extracellular matrix. These defects affect skin, joints, vasculature, and internal organs. In the EDS group, 80%–90% of the conditions are categorized as hypermobile type. Hypermobile Ehlers-Danlos syndrome (hEDS) is thought to be the most common hereditary connective tissue disorder. This disorder distinguishes itself from other types of EDS through the presentation of generalized joint hypermobility (GJH) and related musculoskeletal issues. Patients with hEDS experience a combination of sleep, immune, psychological, dermatological, and neurological dysfunctions. Premature wear on major joints is common, and when conservative treatments are ineffective, many patients rely on surgical options to treat chronic pain. Approximately 71% of patients with EDS report undergoing at least one surgical procedure; however, pain outcomes after surgery are largely unknown (Rombaut et al., 2011). This fact is surprising given the burden and consequences of living with this rare disease. From a review of the literature on hEDS, it is evident that there are still many unknowns regarding the pathology and patterns of this rare condition.
The current project aimed to identify the impact of sex differences and presentation for surgery on the frequency of comorbidities experienced by patients with hEDS. Through a retrospective chart review, the understanding of demographic patterns and the extensive involvement of body systems as related to hEDS were explored. Medical records for 100 hEDS patients who had been treated at Boston Children’s Hospital (Boston, Massachusetts) were reviewed. From the data extracted, it was found that when comparing frequencies of medical comorbidities experienced in individuals diagnosed with hEDS, those patients who underwent surgery reported significantly more comorbidities than those who did not have surgery. In addition, 70% of individuals who presented for surgery fell within the categories of orthopedic, gastrointestinal, or laparoscopic/endometriosis-related surgical procedures. The results of this study may be instructive in the management and care of hEDS patients undergoing surgery.