An Introduction of Ehlers-Danlos Syndrome for the CST Practitio

Ehlers-Danlos Syndrome (EDS) is a genetic, connective tissue disorder affecting collagen production. Since collagen is found throughout the body, all systems, structures and biomechanics can be affected. The most noticeable physical manifestation is joint hypermobility as described by the Beighton Criteria (6), a scoring system for joint hyperflexion and hyperextension (see fig 1). There are six major types of EDS recognized by the Ehlers-Danlos Society (3): Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosporaxis. The severity of symptoms varies among the types and among individuals. The most common type, EDS-Hypermobility Type (EDS-HT), is the focus of this paper. EDS-HT is autosomal dominant, meaning that only one parent with Ehlers-Danlos Syndrome is needed to pass an affected gene to their children which will express itself with varying severity per individual. Unfortunately, there has not yet been a gene coded for Hypermobility Type, but some promising new research has been published in which multiple copies of the alpha-tryptase gene (TPSAB1) have been found in some individuals with a compilation of autonomic nervous system dysfunction (dysautonomia), mast cell activation disorder and hypermobility (11). Symptoms of EDS often worsen with the onset of puberty and tend to progress throughout life. Currently, there is no cure for Ehlers-Danlos Syndrome and conventional treatment is focused on palliative care, physical therapy and pain management.