Types of Ehlers-Danlos Syndrome Under Study
Classical Ehlers-Danlos syndrome (cEDS)
Classical Ehlers-Danlos syndrome (previously known as EDS type I/II) is an inheritable connective tissue disorder that involves skin, tendons, ligaments, and, in some cases, also blood vessels. Most cases are caused by mutations in the genes encoding for the subunits composing type V collagen, an essential component of the extracellular matrix in many of the connective tissues in the body. Individuals with classical EDS usually present with hyperextensible skin and atrophic scars and hypermobile joints.
Hypermobile Ehlers-Danlos syndrome
Hypermobile Ehlers-Danlos syndrome (also known as Ehlers-Danlos syndrome type III) is an inheritable connective tissue disorder involving mainly the joints with hypermobile joints and chronic musculoskeletal pain. Associated extra skeletal symptoms might involve multiple systems including autonomic dysfunction with postural orthostatic tachycardia syndrome (POTS), gastrointestinal problems, and more. The genetic cause for this condition is unknown and the biological processes driving the clinical symptoms in this syndrome are poorly understood. For these reasons, the diagnosis of this condition is based only on clinical evaluation at this time.