Hypermobility syndromes

Abstract

Hypermobility-related syndromes constitute a family of heritable disorders of connective tissue (HDCT) that derive from abnormalities affecting genes that encode for the connective tissue matrix proteins such as collagen, fibrillin, and tenascin. They range from such commonplace though poorly recognized conditions such as the joint hypermobility syndrome (JHS) to the better-known, if more rare, eponymous syndromes such as Marfan's syndrome (MFS) and the different types of the Ehlers-Danlos syndrome (EDS). The more common presentations are with skin pathology (bruising, scaring), joint or spinal and/or muscle pain and instability with vulnerability to injury and chronic widespread pain, cardiac valve pathologies, and in MFS and vascular EDS, arterial dilatation with the risk of dissection and rupture. JHS (widely considered synonymous with the EDS hypermobility type) is further complicated by cardiovascular autonomic dysfunction such as orthostatic intolerance, palpitations, and syncope, and the recently described and commonly encountered pangastrointestinal dysmotility. The latter can manifest as gastro-oesophageal reflux, gastroparesis, slow-transit constipation, or rectal evacuatory dysfunction with rectal intussusception. In addition, HDCT are associated with bladder and uterine problems as a consequence of pelvic floor weakness. Such multisystemic conditions need to be managed by a multidisciplinary team able to draw on medical, surgical, physical, and psychological interventions by appropriately experienced specialists and therapists. This chapter introduces the reader to the epidemiology, genetics, classification, and clinical presentation of JHS, EDS, and MFS. It also describes the key investigations required to support a diagnosis and assess complications of an HDCT, as well as the multidisciplinary approach to management.