UC Irvine

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a condition with heterogeneous clinical features characteristic of a connective tissue disorder (CTD) including generalized joint hypermobility, hyperextensible skin, joint subluxations/dislocations and commonly associated comorbidities such as postural orthostatic tachycardia syndrome and fatigue (Castori et al., 2017; Gensemer et al., 2021). hEDS is the only one among 13 Ehlers-Danlos syndrome (EDS) subtypes without a known etiology or targeted clinical molecular genetic testing, requiring strict clinical diagnostic guidelines and exclusion of other similar conditions (Malfait et al., 2017). Possibly due to the diverse clinical symptoms and the lack of molecular confirmation, hEDS referrals for evaluation for hEDS may be increasingly inundating and overwhelming genetics clinics. This study was a retrospective chart review that analyzed 143 referrals for suspected hEDS/CTD to the University of California, Irvine (UCI) adult genetics clinic and the referring providers’ relevant medical notes, if available. The purpose of this research was to understand why medical professionals refer patients with suspected hEDS/CTD for genetic evaluation and what they document in the referral. First, a classification scheme to identify appropriate referrals was developed using a consensus process. Utilizing a system with four categories of appropriateness, 51% (N=74) of referrals were found to lack enough details to be categorized as appropriate. Additionally, features recorded in the referral documentation were analyzed, and many features related to CTD aside from joint involvements either had not been assessed or were not documented. Many referrals (>75%) also did not document the presence or absence of certain CTD-related features including dislocations, subluxations, easy bruising, and elastic skin. Furthermore, the classification of appropriateness for the primary care referrals differed significantly from that for the referrals from specialist providers (χ2 (3) = 10.48, p=0.02). Referrals from primary care providers were more likely to be missing details (N=26, 47% compared to N=19, 22% for specialty referrals). The findings suggest that educational outreach to referring providers and implementing a referral protocol may help improve the quality of referrals and, ultimately, for genetics clinics to be able to provide optimal support to patients suspected with hEDS/CTD and the providers involved in their medical journeys.