What is Ehlers-Danlos Syndrome?
The Ehlers-Danlos Syndromes (EDS) are a collection of 13+ disorders of the genes that impact connective tissues. Connective tissues make up the membranes and linings of all the organ systems of the body as well as skin, ligaments, and tendons. As a result people with EDS deal with symptoms that can involve every system of the body. Modern healthcare is provided by doctors with an expertise in a single body system, like cardiologists for the heart and dermatologists for the skin. This can make it very challenging for a person with Ehlers-Danlos [and their healthcare providers] to recognize that the wide variety of health problems they experience are actually all part of one underlying condition. Since our healthcare system does not include a doctor that is a ‘connective tissue specialist’ there is no one field of medicine dedicated to recognizing, diagnosing, and helping people manage EDS. As such, many patients go undiagnosed for years to decades.
The first step of diagnosing EDS is recognizing the signs and symptoms of connective tissue dysfunction. Signs may include:
- Joints that seem to be hypermobile (move further than typical)
- Skin that is atypical (stretchy, fragile, soft, velvety, bruises easily, slow healing, or unusual scarring)
- Additional medical issues that seem unusual or excessive (heart abnormalities, bleeding issues, chronic pain, musculoskeletal anomalies)
In today’s world, many patients &/or their loved ones take to the internet and ultimately stumble across EDS as a possibility, which they then bring to their providers. Sometimes a dentist who notices fragile gums or an orthopedist who notes overly stretchy tissues may suggest EDS. Once the suggestion is made, however, the journey to diagnosis is far from over.
Awareness of EDS
Healthcare providers’ awareness of EDS is often based on out-of-date information. Advances in science led to updates of EDS criteria in 2017. EDS is rare (1 in 2,500-5,000) and underdiagnosed, so most providers have not knowingly worked with a person with EDS. Additionally, the severity of EDS vary widely among individuals. Some people have minor annoyances and others suffer disability that impacts basic activities. Some consequences of EDS can be life threatening. This further complicates recognition of the disorders.
Examination and Testing
Once a potential EDS is recognized, the next step is a clinical exam with a knowledgeable provider. All of the Ehlers-Danlos Syndromes have established clinical criteria to indicate potential presence of the disorder. With a clinical exam and thorough review of the person’s medical history, a working diagnosis can be established. At that point, genetic testing can be used to confirm the diagnosis for most types of EDS. This is usually done after referral to a genetics clinic, but in some cases the testing can be ordered by primary care or other specialty. [Final interpretation of results may still require genetics consult.] At present, geneticists who evaluate EDS are rare and often have waiting periods of up to 1-3 years for consultation.
Diagnosing Hypermobile EDS and Hypermobility Spectrum Disorders
Unfortunately, the most common type of EDS, hypermobile Ehlers-Danlos Syndrome (hEDS) does not yet have identified genetic variants. In other words, there is no ‘lab test’ to rule in or rule out this type of EDS at present. Unless exam or history indicate the possibility of another type of EDS or identifiable connective tissue disorder, there is no benefit at present for persons who likely have hEDS to consult a geneticist or undergo genetic evaluation.
Further, the 2017 updates of EDS criteria differentiate between hEDS and HSD (hypermobility spectrum disorders). Prior to 2017, hEDS & HSD did not exist in the medical terminology. Anyone with excessive joint hypermobility and significant disruption of their lives but no other confirmable disorder was diagnosed with EDS-III (EDS type 3), EDS-HT (EDS hypermobility type), BJHS (benign joint hypermobility syndrome), or JHS (joint hypermobility syndrome). These terms were used synonymously to represent hypermobility that was not life threatening.
The renaming and differentiation of hEDS from HSD was done to improve the potential of identifying causative genetic variants with research. At present, the symptoms/treatment/management for hEDS, HSD, EDS-III, EDS-HT, JHS, and BJHS are all exactly the same. Treatment is based on the same limited research, and is guided by each individual’s unique symptoms and response to treatment.
For some individuals, this means that a confirmed diagnosis provides limited benefit. However, for others, a diagnosis seems to open the gateways to more and better options for evaluation and treatment of symptoms as well as to necessary accommodations for their disability.
Finding a Knowledgeable Provider
The Ehlers-Danlos Society provides an international directory of healthcare providers that are qualified to work with people with EDS:
Since a ‘connective tissue expert’ does not exist in our healthcare model, these providers of knowledge may be from almost any branch of medicine bearing any title (MD, DO, PT, PA, FNP, etc). To address the lack of awareness and knowledge about EDS, the Ehlers-Danlos Society launched a program called the EDS ECHO in 2019. This training is available to providers all over the world and connects them to each other and experts in the field so that any healthcare provider can learn to expertly care for people with EDS. Patients can direct their providers to https://www.ehlers-danlos.com/echo/ for access to this program.
At Foothills Orthopedic & Sport Therapy, both Dr. Kimberly Saunders, PT and Kara Creaghe, PTA at the Fort Collins office have completed EDS ECHO training programs, allowing us to provide the most informed care available for people with EDS or HSD.
Help Us Spread Awareness About EDS
If you’d like to help spread awareness about EDS, you can:
- Share this article with friends on the web
- Let your healthcare providers know about EDS ECHO training opportunities
- Join the Ehlers-Danlos Society’s awareness campaign https://www.ehlers-danlos.com/may-awareness/