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Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers‐Danlos syndrome from benign joint hypermobility syndrome in patients
Author(s) -
Nielsen Rie Harboe,
Couppé Christian,
Jensen Jacob Kildevang,
Olsen Morten Raun,
Heinemeier Katja Maria,
Malfait Fransiska,
De Paepe Sofie SymoensAnne,
Schjerling Peter,
Magnusson Stig Peter,
Remvig Lars,
Kjaer Michael
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fj.14-249656
Subject(s) - joint hypermobility , ehlers–danlos syndrome , tendon , medicine , isometric exercise , pathology , anatomy
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 ~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.—Nielsen, R. H., Couppé, C., Jensen, J. K., Olsen, M. R., Heinemeier, K. M., Malfait, F., Symoens, S., De Paepe, A., Schjerling, P., Magnusson, S. P., Remvig, L., Kjaer, M., Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers‐Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB J. 28, 4668–4676 (2014). www.fasebj.org