Ehlers Danlos syndrome is a group of inherited connective tissue disorders caused by a defect in collagen that can affect joints, vascular and other bodily systems. Symptoms and severity can vary from person to person making it a difficult to identify at times. Some of the characteristics of this highly under-recognized condition include:
Skin:
- Soft, velvety
- Elastic, hyperextends
- Bruises easily
- Heals poorly
- Abnormal, stretched or atrophic scars
Joints:
- Hypermobile (move beyond the normal range)
- Frequent dislocations and/or subluxations (partial dislocations)
- Early onset osteoarthritis
Other Symptoms:
- Chronic musculoskeletal pain (bone and muscle)
- Fatigue
- Osteoporosis
- Gastrointestinal issues
- Dysfunction of the autonomic nervous system
- Irregular or heavy menses
- Cardiovascular abnormalities such asmitral valve or aortic root dilatation
- Arterial/intestinal/uterine fragility or rupture (Vascular)
- Scoliosis / Flat Feet/ Pectus Excavatum
- Scleral fragility
- Gum disease
- Hearing Loss
- Vision Issues
Neurological manifestations such as Chiari Malformation, Tethered Cord and other symptoms can also be indicators of EDS. For more updated information on the multi-systemic manifestations of EDS, please check out:
EDS Hypermobility Type: A Much Neglected MultiSystemic Disorder
How Is EDS Diagnosed?
There are currently 13 different subtypes of EDS, as well as several newly classified connective tissue disorders. Genetic counseling is highly recommended to evaluate symptoms in accordance with the new clinical criteria.
The Beighton test remains a popular diagnostic tool to check for hypermobility. A Beighton score of 4/9 or higher indicates hypermobility. However, patient history and active symptoms must also be evaluated to determine if EDS or a connective tissue disorder is indicated.
Learn more about the Beighton Test and see how you rank.
Prevalence:
It was once believed that EDS affects 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests that connective tissue disorders may be as common as 1 in 500. The vascular type is considered rare; estimates suggest VEDS affects about 1 in 250,000 people.
Prognosis:
There is currently no cure for EDS, but early diagnosis, proactive management and preventative treatment of symptoms is the best way to preserve mobility and maintain the best possible quality of life.
Additional EDS Information:
Our goals are world-wide awareness—and a better quality of life for all who suffer from these conditions. Research is at the center of what we do, so that one day we will have a cure. Our strength begins with hope.
Many around the world face a diagnostic odyssey: years, sometimes lifetimes, fighting for recognition, diagnosis, and care. The Ehlers-Danlos Society is working towards a time when geography and wealth no longer determine your quality of life.
Education is needed to advance early diagnosis and intervention—and post-diagnosis, patients urgently need support and guidance. We want to give hope to all those living with the Ehlers-Danlos syndromes and hypermobility spectrum disorders.
Reports from the 2017 International Consortium on the Ehlers-Danlos Syndromes