There are a number of different types of Ehlers-Danlos syndrome (EDS). These are heritable connective tissue disorders affecting the quality of collagen in our bodies. They are very variable in nature and the diagnosis is made in various ways, depending on subtype.
Hypermobile-type EDS (hEDS) and the associated Hypermobility Spectrum Disorder (HSD), are relatively common, and the diagnosis is made on clinical history and examination. A link to the hEDS diagnostic checklist and patient resource on HSD can be found below.
Whilst hEDS does have a significant familial component, extensive studies have so far failed to demonstrate a specific gene cause for this and, therefore, there is no confirmatory genetic test that can be offered to patients with hEDS.
The Royal College of General Practice has produced guidance on the diagnosis of hEDS and currently recommends that this condition should be managed through Primary Care with onward referral to specialties for management of any complications that patients experience. The link to the GP toolkit is below. Our colleagues in the Oxford Genetic Service have developed a referral pathway which is widely followed throughout the UK, a link to this can be found below.
As per the referral pathway, if there are specific clinical features to suggest any of the genetically characterised sub-types of Ehlers Danlos Syndrome, particularly the vascular type, then we would be happy to evaluate your patient. In addition, if there are genetic variants identified in other family members, then do let us know. If there are specific symptoms suggestive of other conditions in the differential including Loeys-Dietz Syndrome (e.g. craniosynostosis, scoliosis, pectus, bifid uvula, contractures, arachnodactyly in the context of cardiac / vascular issues etc) or Marfan Syndrome, Bethlem myopathy (contractures, proximal weakness, elevated CK) or a skeletal dysplasia, then again please let us know about these clinical features and this patient could be appointed in Clinical Genetics.