Relative Energy Deficiency In Sport May Mask Hypermobile Ehlers-Danlos Syndrome: A Retrospective Case Study

Ehlers-Danlos Syndrome is a genetic connective tissue disorder that presents in numerous ways with 13 subtypes. Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common subtype characterized by hypermobile joints, frequent dislocations, and other health problems. Average time to diagnosis is ~10 years and may be difficult in populations such as dancers, who require extreme mobility. Relative energy deficiency in sport (REDs) also occurs at higher levels in dancers. PURPOSE: Investigate the temporal relationships between REDs and hEDS in a patient (prior dancer) who was diagnosed with hEDS after overcoming a long-term state of REDs (~13 yrs). We posit that REDs may have masked hEDS symptoms (Sx) until restoration of energy availability. Specifically, because ovarian hormones can alter joint laxity the hEDS Sx were absent. METHODS: To assess these relationships, we examined longitudinal blood labs, menstrual history, and DEXA scans (REDs indicators), and hEDS Sx presentation in the presence/absence of REDs. RESULTS: She initially presented with undiagnosed hEDS Sx (hernia repair and hypermobility) at age 14 after menarche. However, based on retrospective analyses, she subsequently developed REDs and hormonal dysfunction with no additional hEDS Sx. The patient stopped dancing at age 18 and transitioned to running; however, low energy status was not fully corrected, and patient did not begin menstruating regularly until age 27. Upon return of regular menstruation, she developed more hEDS Sx including 2 joint injuries within a 3-month period (both around the time of ovulation), varicose veins, and others. Interestingly, the increased hEDS Sx coincided with significant improvement in the patient’s diagnostic status for 2 REDs indicators: reversal of osteopenia (z-score Δ -1.3 to 0.1) and hypercholesterolemia (LDL Δ 180 to 113 mg/dL). CONCLUSION: While we only examined the changes in one patient with confounding limitations, the observations suggest REDs could mask hEDS Sx. As ovarian hormones can alter ligament laxity, it is possible that alleviation of REDs and subsequent recovery of menstrual function may have exacerbated hEDS Sx. Thus, more inquiries should be conducted in individuals presenting with hypermobility and REDs as hormone dysfunction may mask hEDS Sx and further delay diagnosis.