Advanced search
1 file | 346.12 KB Add to list

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

(2014) FASEB JOURNAL. 28(11). p.4668-4676
Author
Organization
Abstract
There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients (cEDS, n=7; BJHS, n=8) and controls (Ctrl, n=8), we measured patellar tendon ultrastructure (transmission electron microscopy), dimensions (magnetic resonance imaging), and biomechanical properties (force and ultrasonographic measurements during a ramped isometric knee extension). Mutation analyses (COL5A1 and COL5A2) were performed in the patients. COL5A1 mutations were found in 3 of 4 of the patients with cEDS. Patellar tendon dimensions were similar between the groups, but large, irregular collagen fibrils were in 4 of 5 patients with cEDS. In the cEDS group, tendon stiffness and Young's modulus were reduced to approximate to 50% of that in BJHS and Ctrl groups (P<0.05). The nonhypermobile, healthy controls were matched with the patients in age, sex, body weight, and physical activity, to compare outcomes. COL5A1 mutations led to structural tendon pathology and low tendon stiffness in cEDS, explaining the patients' hypermobility, whereas no tendon pathology was found that explained the hypermobility in BJHS.
Keywords
muscle, cauliflower fibrils, null-allele analysis, SYNDROME TYPES-I, MECHANICAL-PROPERTIES, PATELLAR TENDON, V COLLAGEN, COL5A1 HAPLOINSUFFICIENCY, VISCOELASTIC PROPERTIES, VIVO, PREVALENCE, FEATURES, CRITERIA

Downloads

  • (...).PDF
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 346.12 KB

Citation

Please use this url to cite or link to this publication:

MLA
Nielsen, Rie Harbou, Christian Couppé, Jacob Kildevang Jensen, et al. “Low Tendon Stiffness and Abnormal Ultrastructure Distinguish Classic Ehlers-Danlos Syndrome from Benign Joint Hypermobility Syndrome in Patients.” FASEB JOURNAL 28.11 (2014): 4668–4676. Print.
APA
Nielsen, R. H., Couppé, C., Jensen, J. K., Olsen, M. R., Heinemeier, K. M., Malfait, F., Symoens, S., et al. (2014). Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB JOURNAL, 28(11), 4668–4676.
Chicago author-date
Nielsen, Rie Harbou, Christian Couppé, Jacob Kildevang Jensen, Morten Raun Olsen, Katja Maria Heinemeier, Fransiska Malfait, Sofie Symoens, et al. 2014. “Low Tendon Stiffness and Abnormal Ultrastructure Distinguish Classic Ehlers-Danlos Syndrome from Benign Joint Hypermobility Syndrome in Patients.” Faseb Journal 28 (11): 4668–4676.
Chicago author-date (all authors)
Nielsen, Rie Harbou, Christian Couppé, Jacob Kildevang Jensen, Morten Raun Olsen, Katja Maria Heinemeier, Fransiska Malfait, Sofie Symoens, Anne De Paepe, Peter Schjerling, Stig Peter Magnusson, Lars Remvig, and Michael Kjaer. 2014. “Low Tendon Stiffness and Abnormal Ultrastructure Distinguish Classic Ehlers-Danlos Syndrome from Benign Joint Hypermobility Syndrome in Patients.” Faseb Journal 28 (11): 4668–4676.
Vancouver
1.
Nielsen RH, Couppé C, Jensen JK, Olsen MR, Heinemeier KM, Malfait F, et al. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB JOURNAL. 2014;28(11):4668–76.
IEEE
[1]
R. H. Nielsen et al., “Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients,” FASEB JOURNAL, vol. 28, no. 11, pp. 4668–4676, 2014.
@article{5827223,
  abstract     = {There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients (cEDS, n=7; BJHS, n=8) and controls (Ctrl, n=8), we measured patellar tendon ultrastructure (transmission electron microscopy), dimensions (magnetic resonance imaging), and biomechanical properties (force and ultrasonographic measurements during a ramped isometric knee extension). Mutation analyses (COL5A1 and COL5A2) were performed in the patients. COL5A1 mutations were found in 3 of 4 of the patients with cEDS. Patellar tendon dimensions were similar between the groups, but large, irregular collagen fibrils were in 4 of 5 patients with cEDS. In the cEDS group, tendon stiffness and Young's modulus were reduced to approximate to 50% of that in BJHS and Ctrl groups (P<0.05). The nonhypermobile, healthy controls were matched with the patients in age, sex, body weight, and physical activity, to compare outcomes. COL5A1 mutations led to structural tendon pathology and low tendon stiffness in cEDS, explaining the patients' hypermobility, whereas no tendon pathology was found that explained the hypermobility in BJHS.},
  author       = {Nielsen, Rie Harbou and Couppé, Christian and Jensen, Jacob Kildevang and Olsen, Morten Raun and Heinemeier, Katja Maria and Malfait, Fransiska and Symoens, Sofie and De Paepe, Anne and Schjerling, Peter and Magnusson, Stig Peter and Remvig, Lars and Kjaer, Michael},
  issn         = {0892-6638},
  journal      = {FASEB JOURNAL},
  keywords     = {muscle,cauliflower fibrils,null-allele analysis,SYNDROME TYPES-I,MECHANICAL-PROPERTIES,PATELLAR TENDON,V COLLAGEN,COL5A1 HAPLOINSUFFICIENCY,VISCOELASTIC PROPERTIES,VIVO,PREVALENCE,FEATURES,CRITERIA},
  language     = {eng},
  number       = {11},
  pages        = {4668--4676},
  title        = {Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients},
  url          = {http://dx.doi.org/10.1096/fj.14-249656},
  volume       = {28},
  year         = {2014},
}

Altmetric
View in Altmetric
Web of Science
Times cited: