(A240) Risk of Temporomandibular Joint Disorder Among Patients with Marfan Syndrome vs. Ehlers-Danlos Syndrome

Introduction: Marfan (MFS) and Ehlers-Danlos Syndromes (EDS) are both connective tissue disorders that may cause a high arched palate, which can contribute to temporomandibular joint (TMJ) disorder (TMD) by causing misalignment in the jaw. Currently, literature shows an association between TMD and MFS and EDS independently. However, no studies have evaluated whether patients with MFS or EDS have an increased risk of TMD.

Methods: We conducted a retrospective cohort study utilizing de-identified patient data from the TriNetX platform, a comprehensive electronic health records system consisting of 143 healthcare systems and more than 163 million patients' clinical records from 18 participating countries. The 10-year prevalence (01/01/2014-01/01/2024) of TMD among patients with MFS or EDS was assessed. For risk assessment, propensity score matching was employed to balance baseline characteristics, including age, sex, ethnicity, and comorbidities.

Results: The risk of TMD development among MFS patients was 0.833% (N=21,010, Patients with outcome N=175) while the risk for EDS patients was 1.696% (N=20,752, Patients with outcome N=352). P-value < 0.0001, risk ratio 2.036, CI 95% (1.701,2.439).

Conclusions: While both MFS and EDS can present with joint hypermobility, it is more pronounced in EDS because EDS directly affects collagen synthesis and processing, increasing joint elasticity, whereas MFS primarily impacts microfibrils and elastin of connective tissue, which have less influence on joint flexibility. Patients with EDS are at higher risk of TMD due to joint hypermobility, weakened connective tissues, and instability in the TMJ, which makes it prone to misalignment and strain. Muscle overcompensation and repeated microtrauma further contribute to TMJ dysfunction, while bruxism often exacerbates symptoms. Effective management typically involves non-invasive treatments like physical therapy and splints, with surgery reserved for severe cases due to higher risks associated with EDS-related tissue fragility.