The Ehlers-Danlos group of syndromes represent several hereditary gene mutations characterised by increased laxity of connective tissue. Such laxity manifests as joint hypermobility – recognised by the 9-point Brighton’s scale – and hyperextensibility of the skin. Several other connective tissue abnormalities, such as semi-transparent skin or arterial complications, are associated with various types of the Ehlers-Danlos syndromes. Susceptibility to bruising and bleeding haunt EDS patients, a complication credited to the lack of protection of capillaries from the impaired collagen, rather than an issue of reduced coagulation.
The hypermobility type of EDS is a common precursor to musculoskeletal injury, osteoarthritis, soft tissue overuse injury and joint dislocation and subluxation as a result of joint instability. Complaints of joint pain are of non-inflammatory origin or spinal pain despite incidence of tendonitis, bursitis and sacroiliac symptoms in this group. Early onset fatigue and a lack of response to local anaesthesia constitute additional complaints of patients with EDS that clinicians would do well to consider. The disability potential for someone with EDS increases with recurrent dislocations/subluxations and chronic pain.
The hypermobility type of EDS is distinguishable from Benign Joint Hypermobility Syndrome (JHS) by the presence of additional abnormalities of skin hyperextensibility and vascular fragility. Accounting for age, gender and ethnic background, joint hypermobility should be measured by the 9-point Brighton’s scale which includes the following tests:
Diagnosis of JHS and indication for further testing to confirm EDS is dependent on the results of the Brighton’s Scale. 1/5000 people are believed to be affected by one of the 6 known categories of EDS, with males and females statistically equal. At least 90% of the total individuals with EDS have either the hypermobility or classic type of EDS, representing the most common (approximately 90%) and least severe of the group. That is not to say, however, that patients of these categories are free of multi-systemic complications.
Mutation of the COL3A1 gene is characteristic of patients affected by the vascular type of EDS, which is identified as the most severe of all. Cardiovascular and autonomic nervous system complications are varied, requiring surveillance with echocardiographic imaging. One-third of patients with EDS-HT were found to have a mild degree of aortic root dilatation. Raynauds phenomenon was reported in 38% of EDS-HT patients, while palpitations chest pain, dizziness and syncope (transient loss of consciousness) can also affect these people.
One review reports 57% of EDS-HT patients are simultaneously affected with GORD, whereas 86% are affected by gastrointestinal discomfort attributed to dyspepsia or gastritis. IBS accompanies 62% of EDS-HT patients while early satiety and delayed gastric emptying (exacerbated by opioids) are very commonly reported.
Hakim and Grahame discovered a 58% rate of anaesthesia resistance in EDS-HT subjects compared to 20% of controls. Additionally, acuity of proprioception is known to be impaired in adult and paediatric patients, leading to an increased incidence of gait impairment and frequency of falls, especially in elderly EDS-HT patients. This review advocates for improvements in proprioception should be a common goal among EDS-HT clients to reduce the risk of falls, alleviate activity limitations and increase muscle strength.
Gynecological, Urological, Obstetric and Psychiatric complications may also affect individual patients with EDS-HT.
Sound diagnosis and classification are dependent on clinical history, family history and physical examination, all of which should be supported by laboratory confirmation of gene mutation.
Review by Thomas McMahon, Brindabella Podiatry