Faith Parks

Have Scientists Finally Discovered a Laboratory Test to Diagnose Hypermobile Ehlers-Danlos Syndrome? By: Faith Parks, hEDS diagnosed patient (2017) A 2024 study published in the American Journal of Medical Genetics may have pinpointed bloodbased biomarkers that could assist in the diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). This is an important discovery because there had previously been no diagnostic laboratory tests for these disorders. Ehlers-Danlos syndrome is a group of 13 rare inherited connective tissue disorders caused by genetic mutations affecting the connective tissues. Each type of EDS has its own features and diagnostic criteria, but some features are seen across all types, most notably joint hypermobility, tissue fragility, and skin hyperextensibility. EDS Types: • Arthrochalasia (aEDS) • Kyphoscoliotic (kEDS) • Brittle cornea syndrome (BSC) • Musculocontractural • Cardiac-valvular (cvEDS) • Myopathic (mEDS) • Classical (cEDS) • Periodontal (pEDS) • Classical-like (cEDS) • Spondylodysplastic (spEDS) • Dermatosparaxis (dEDS) • Vascular (vEDS) • Hypermobile (hEDS) hEDS Hypermobile Ehlers-Danlos syndrome is the most common type of EDS, making up about 90% of all EDS cases. It is thought to affect 1 in 3,100-5,000 people, although the true prevalence is unknown due to under-diagnosis from the lack of genetic testing currently available. The cause of the condition has not yet been identified but appears to follow an autosomal dominance inheritance pattern, meaning that EDS patients have a 50% chance of passing it on to their children. Symptoms/Diagnosis A physician may explore the possibility of hypermobile EDS if a patient presents with chronic pain, chronic fatigue, joint instability, abnormal scarring/bruising, or mild skin hyperextensibility. Many patients also experience dysautonomia, gastrointestinal issues, headaches, and mast cell activation diseases. Because of the lack of laboratory testing for hEDS, a diagnosis is made purely off patient clinical presentation. The diagnosis is given to patients who meet specific clinical diagnostic criteria (linked below). Many of these signs & symptoms are generalized and overlap with other disorders, leading to under-diagnosis. https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf HSD Hypermobility spectrum disorders are connective tissue disorders that express the same signs & symptoms as hEDS, but have been ruled not to be related to Ehlers-Danlos syndrome. To get a diagnosis of HSD, several conditions must first be ruled out. • Ehlers-Danlos syndrome, especially hEDS • Autoimmune connective tissue disorders such as lupus or rheumatoid arthritis • Other inherited connective tissue disorders such as osteogenesis imperfecta or Marfan syndrome • Neuromuscular disorders with the ability to cause unstable joints such as multiple sclerosis • Chromosomal conditions such as Kabuki syndrome, Down syndrome, or Fragile X syndrome 2024 Study The recent study funded by The Ehlers-Danlos Society has identified potential blood-based biomarkers that could aid in the diagnosis of hypermobile Ehlers-Danlos syndrome. Researchers examined the blood samples of 466 adults which includes 94 diagnosed with hEDS and 80 with HSD. Researchers found a specific 52 kDa fragment of fibronectin was found in all patients with hEDS and HSD. In the set of healthy individuals, individuals with other types of EDS, and patients with arthritis the fragment was notably absent. This presented the idea that perhaps HSD and hEDS are the same disorder, hence why the fragment was only found in those specific patients. This identification was a massive breakthrough, setting the groundwork for laboratory testing for hEDS and HSD. The study also found specific fragments associated with psoriatic arthritis, osteoarthritis, and rheumatoid arthritis. Future While this identification has been a huge step in the right direction, scientists say we are still a long way from having FDA-approved laboratory testing for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. Other researchers must now confirm the results from this study before any sort of commercial testing is offered. The Ehlers-Danlos Society and patients can look forward to a future of easier diagnosis and earlier disorder management. Ritelli, M., Chiarelli, N., Cinquina, V., Bertini, V., Piantoni, S., Caproli, A., Della Pina, S.E.L., Franceschini, F., Zarattini, G., Gandy, W., Venturini, M., Zoppi, N. and Colombi, M. (2025), Bridging the Diagnostic Gap for Hypermobile EhlersDanlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker. Am J Med Genet, 197: e63857. https://doi.org/10.1002/ajmg.a.63857