What is Ehlers-Danlos Syndrome
The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility.
Each type of EDS has a different prevalence in the population. Hypermobile EDS (hEDS) is the most common type of EDS by far. hEDS accounts for about 90% of EDS cases and is thought to affect at least 1 in 3,100-5,000 people. hEDS is currently classified as a rare disorder, but the true prevalence is not known and may be underestimated. Classical EDS (cEDS) and vascular EDS (vEDS) are much rarer than hEDS. cEDS affects roughly 1 in 20,000-40,000 people. vEDS affects about 1 in 100,000-200,000 people. All other types of EDS are classified as ultra-rare, affecting less than 1 in 1 million people. Several types of EDS have only been reported in a few affected families.
Each type of EDS has its own clinical diagnostic criteria. Clinical diagnostic criteria are a set of symptoms and characteristics observed in each condition. If a person meets the diagnostic criteria for a type of EDS, a genetic test should be done to confirm the diagnosis. The genetic cause(s) of hEDS have not yet been identified, so there is currently no genetic test available to diagnose hEDS. The diagnosis of hEDS is given to those who meet the clinical diagnostic criteria for hEDS. If a person has symptomatic joint hypermobility but does not meet the diagnostic criteria for any type of EDS or other condition that can cause similar symptoms, then the hypermobility spectrum disorders (HSD) should be considered. You can read more about HSD here.
The Ehlers-Danlos syndromes can be passed on from parent to child. Each type of EDS is inherited in either a dominant or recessive inheritance pattern. A dominant inheritance pattern means that just one copy of a genetic variant (passed down from one parent) is needed to inherit the condition. If a person has a condition with a dominant inheritance pattern, each of their children will have a 50% chance of inheriting the condition. A recessive inheritance pattern means that a person must inherit two copies of the genetic variant (one from each parent) in order to have the condition. Since the genetic cause(s) of hEDS are not yet known, family histories suggest this condition has a dominant inheritance pattern.
Ehlers-Danlos Society: ehlers-danlos.com
Everyone's experience with EDS is different. Every person has different co-morbidities (the diseases that commonly go along with EDS). This makes it very difficult to diagnose. On average it takes a person 10-15 years to be diagnosed. There is a saying in medicine, "when you hear hoof beats, think horses, not zebras." EDS is the Zebra of syndromes and diseases, thus the zebra became its symbol. Each zebra posses its own special, unrepeated set of stripes, just like how individual each person with EDS is.
Resources
Diagnostic Criteria For Hypermobile Ehlers-Danlos Syndrom (hEDS)
Insurance Diagnosis Codes for EDS:
Q79.60 Ehlers-Danlos syndrome, unspecified
Q79.61 Classical Ehlers-Danlos syndrome
Q79.62 Hypermobile Ehler-Danlos syndrome
Q79.63 Vascular Ehler-Danlos syndrome
Q79.69 Other Ehler-Danlos syndrome
Email info@hypermobility.org for support and advice on any aspect of living with hypermobility.
Hypermobility Expert and Pilates Trainer Jeannie Di Bon https://jeanniedibon.com/
Guided gentle movement and support group specialized for EDS and HDS
Find a Doctor who knows about EDS in your state:
EDS Healthcare Provider Directory
Assistive devices:
American Medical Compression socks
Custom pill boxes by The Pill Box Punk
Read:
Long Covid and Generalized Joint Hypermobility
Hypermobility Without Tears: Moving Pain-Free with Hypermobility and EDS