Abstract
Classic Ehlers‐Danlos Syndrome (cEDS) is mainly caused by collagen V mutations and the phenotype is associated with joint hypermobility, pain and dislocations. Eight patients clinically diagnosed with cEDS (age 39 ± 11 years, BMI 24 ± 4 kg/m2, mean ± SD) were matched with eight healthy controls (age 41 ± 14 years, BMI 25 ± 5 kg/m2). Patellar tendon tissue was imaged with transmission electron microscopy (TEM), tendon size was obtained with magnetic resonance imaging (MRI) and measures of tendon biomechanical properties were done by ultrasonography‐based tendon elongation during isometric knee contractions. TEM images revealed large irregular collagen fibrils (cauliflower‐like) in cEDS patients. MRI showed no differences in tendon size between cEDS and controls. The biomechanical properties of the patellar tendon were severely altered in cEDS patients; showing >;60% reduction in stiffness (1486 ± 698 vs. 4029 ± 1645 N/mm, p<0.01) and Young's modulus (0.56 ± 0.29 vs. 1.68 ± 0.75 GPa, p<0.05) compared to controls. In conclusion, the altered tendon ultrastructure and stiffness in cEDS patients indicate that tendon tissue can, at least partly, explain the observed joint hypermobility in cEDS.
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