What even is Ehlers-Danlos Syndrome?
Blog Post #1
If you’re new here, welcome! I wanted my first blog post to cover a general overview of what exactly the Ehlers-Danlos Syndromes (EDS) are. If you’ve been newly diagnosed, hi. I know how overwhelming everything can feel at the beginning of your road of advocacy to diagnosis, or once you are finally diagnosed. Thank you for being here. I hope this blog helps you feel some relief and less alone. I don’t want to delve too deep yet as EDS can affect every body system in some unexpected ways. To start, the Ehlers Danlos Syndromes are a collection of heritable connective tissue disorders, caused by a defect in collagen, the primary component of connective tissue. Think of the collagen as the “glue” that holds the muscles, ligaments, tendons, bones, organs and skin together in the body. Due to collagen being defected in EDS, the primary body systems EDS can affect are the musculoskeletal systems, the autonomic nervous system, the gastrointestinal system, the immune system and the peripheral nervous system.Connective tissue disorders are caused by issues that prevent connective tissue from functioning properly. These conditions cause different symptoms from patient to patient including but not limited to joint hypermobility, skin hyperextensibility and tissue fragility, of which are commonly seen across all 13 subtypes of EDS. The 13 types of EDS are unique in their symptom manifestation and specific diagnostic criteria. Other common symptoms that may cross over a majority of EDS types are chronic pain, headaches, chronic fatigue, GI symptoms and a myriad of comorbidities, including Dysautonomia (Dysfunction of the Autonomic Nervous System), MCAS (Mast Cell Activation Syndrome), Gastroparesis, and others. The most common type of EDS is hypermobile Ehlers-Danlos Syndrome. hEDS is the only subtype of EDS for which the causative gene has still not been officially determined. There is currently research being done at the Medical University of South Carolina, the first lab dedicated specifically towards research for hypermobile Ehlers-Danlos Syndrome & its’ genetic components. Recently they have identified a very strong candidate gene, which has not been released yet to the public. If you enjoyed reading, future blog posts will include more about my Journey to a Diagnosis of Classical Like EDS and life now.