Ehlers-Danlos Syndromes
Ehlers-Danlos Syndromes are a group of 13 genetic connective tissue disorders that affect the way collagen is produced or used in the body. Collagen is a protein that provides structure and support to connective tissue throughout the body, including skin, muscles, ligaments, tendons, and bones. When collagen structure or production is impaired, the connective tissue holding our bodies together becomes weak. Ehlers-Danlos Syndromes are complex and typically affect multiple body systems at once.
The EDS Subtypes
There are currently 13 recognized subtypes of EDS. They are classified based on clinical features, genes affected, and pattern of inheritance:
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Arthrochalasia EDS (aEDS)
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Brittle cornea syndrome (BCS)
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Cardiac valvular EDS (cvEDS)
Hypermobile EDS (hEDS)
Hypermobile EDS (hEDS) is the most common subtype, with symptoms often including joint hypermobility, chronic pain, and fragile, velvety skin that bruises easily. People with hEDS can be prone to subluxations and dislocations that occur spontaneously or on minimal impact. They can also have related conditions, including dysautonomia/POTS, Mast Cell Activation Syndrome (MCAS), gastrointestinal dysmotility, and chronic fatigue. The Norris Lab's recent global study found that hEDS patients surveyed had an average of 24 co-occurring conditions.
Hypermobile EDS is considered a genetic condition. However, scientists are still in the process of identifying genes that impact the condition; at this time, there is no reliable genetic testing available for hEDS. Instead, the diagnostic process relies on clinical verification.
Vascular EDS (VEDS)
Vascular EDS (VEDS) is a rare, serious connective tissue disorder. “Vascular” refers to the body’s system of blood vessels. People with VEDS have fragile arteries (blood vessels) and internal organs, putting them at high risk of severe bleeding, organ rupture, and other life-threatening complications.
VEDS is caused by mutations (changes) in the gene that tells the body how to make collagen III, a protein that provides strength to blood vessels, the bowel, uterus, and other hollow organs. In people with VEDS, these genetic changes have serious consequences: their bodies do not produce enough collagen III, or the collagen III they make is faulty and does not function properly. When collagen III cannot do its job, blood vessels and other organs can become severely fragile.
How is EDS Diagnosed?
Doctors who specialize in connective tissue disorders diagnose EDS based on a combination of physical exam, co-occurring conditions, family history, and genetic testing. During a physical exam, the doctor will look for signs and symptoms of EDS, including joint hypermobility, stretchy skin, and easy bruising. They will ask questions about your family medical history to determine if your relatives have signs of a connective tissue disorder or related conditions. They will recommend genetic testing if they suspect you have one of the 12 subtypes of EDS with a recognized genetic marker. If the doctor suspects you have hypermobile Ehlers-Danlos Syndrome, they may not recommend genetic testing, since there is currently no genetic test available.
What treatment is available for EDS?
Finding the right treatment plan for you can have a profound impact on your quality of life. More information for EDS treatment coming soon!
Pain Management
Medications, Supplements, Laser, Accupuncture, Pain relief devices
Physical Therapy
Paced exercise focused on building stability, not flexibility; gradual increase to avoid flare-ups
Lifestyle Changes
Ergonomic setup for work, sleep, travel; disability accomodations, mobility aids, pacing
Surgery
Surgical intervention with specialists familiar with EDS/CTDS
Young scientists with EDS are leading research to better understand Ehlers-Danlos Syndromes
The CTC is honored to have scientists Dr. Cortney Gensemer, Izzy Kornblau MS, CGC, and Jeevan Mann (MD-PhD candidate) serving as members of our Medical Advisory Board.
MIND 2025: Living the Science as an EDS Patient
The Next Generation of EDS Experts with Jeevan Mann and Delaney Kenney (Ep 122)
How Research is Changing the Future for Chronic Illness Patients (ft. Cortney Gensemer)
More Resources
Please note, the resources below are primarily focused on hypermobile Ehlers-Danlos Syndrome. More resources for the rare subtypes coming soon! If you know of an initiative or are leading a project that centers rare subtypes of EDS, please let us know.
Film: COMPLICATED
The film sheds light on the struggles of children/young adults living with hEDS and how the medical system continues to fail those with complex, mysterious conditions
Book: Disjointed
A guide to navigating hEDS, HSD & co-occurring conditions like MCAS and Dysautonomia
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