Background/Purpose: Ehler-Danlos Syndrome (EDS) constitutes a heterogeneous group of inherited connective tissue disorders characterized by abnormalities of collagen I, III, V, or fibronectin, and primarily affects the joints, skin and blood vessel walls. Other “true connective tissue diseases”, such as osteogenesis imperfecta, a disease of collagen I, are characterized by severe osteoporosis and fractures; however these are not commonly described in EDS. Two case-series have examined bone mineral density in EDS: seven EDS patients with early onset osteoporosis were described by Deodhar et al., and Coelho et al. described 4 young Portuguese EDS patients who had osteopenia/osteoporosis primarily of the lumbar spine. Here, we have examined bone mineral density in a cohort of EDS patients followed at the Rush Connective Tissue diseases clinic.

Methods: Patients with a diagnosis of EDS where identified from the Rush Inherited connective tissue disease repository from 2010- June 2014. The study was approved by the Institution’s IRB and informed consent was obtained from each participant prior to inclusion in the study. Demographics were recorded and areal bone mineral density (BMD) was assessed by dual photon X-ray absorptiometry (DEXA).

Results: 14 subjects with a diagnosis of EDS underwent bone mineral densitometry. Baseline demographics are described in the table. Of the 14 patients, two were male. None had prior exposure to glucocorticoids, though two did receive such treatment after having undergone DEXA (one for mast cell degranulation syndrome and one for possible undifferentiated inflammatory arthritis). Of the 14 participants, 6 had osteopenia and 1 had osteoporosis. Those with low bone mineral density were older than those with normal density (43.0± 10.9 vs. 28.7± 10.8, p=0.03, mean ±S.D.). Mean T-score at the femoral neck in the patients with decreased BMD was -1.44 (-2.8 to -1.1) and the mean T-score at the Lumbar spine was – 0.97 (-2.7 to +1.2). 5 out of the 7 patients had both their femoral neck and Lumbar spine T-scores < -1.0 and the remaining 2 patients had femoral neck T-score < -1.0.

Table

Conclusion: Our data suggest that EDS may be associated with decreased BMD. Patients with EDS with decreased BMD were more likely to be older than EDS patients with normal BMD. Nevertheless, the mean age of those patients is still lower than when traditional screening for osteoporosis is considered. If these findings are replicated in other cohorts, then it would suggest that EDS should be considered an indication for early BMD screening. Nonetheless, the clinical significance of these findings remains unclear, as does the role of potential therapy to prevent or treat such low BMD.