Loretta Harmes, the nil-by-mouth foodie, spent years desperately trying to convince the staff at eating disorder units that she no longer had anorexia — and instead, she simply couldn't eat because of excruciating bowel and stomach problems. Later diagnosed with Ehlers-Danlos Syndrome, her story might be high-profile, but it isn't, unfortunately, rare.
The syndrome — which itself, in case you were wondering, means "a set of symptoms consistently occurring together" — manifests in such varied ways that doctors are often unable to piece them together, a process that isn't made any easier by the fact that Ehlers-Danlos Syndrome isn't just rare, but also only an umbrella term that encompasses at least 13 subtypes, each of which manifesting with very different symptoms.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome is a connective tissue disorder. People with EDS have differences in the structure, production, and functioning of collagen, which in turn affects major body systems ranging from the skin, bones, and ligaments. As of 2017, 13 subtypes of Ehlers-Danlos Syndrome are recognized, and among them are:
- Hypermobile Ehlers-Danlos Syndrome, which is simulatenously the most well-known and least severe form of this syndrome. Joint hypermobility is the clearest symptom, and it can affect both the small and large joints — so see this in action, head over to YouTube. People with hypermobile EDS further tend to experience frequent dislocations, chronic muscle pain, are prone to osteoarthritis ("wear and tear" arthritis) and osteoporosis (brittle bones), and often experience excrutiating digestive problems. Cardiovascular problems, smooth and elastic skin and, in women, painful menstruation and other symptoms related to reproductive health, are also common.
- Classical Ehlers-Danlos Syndrome may feature the same elastic skin and hypermobility, but also leads to easy bruising and calcified hematomas, along with fat-filled cysts and problems with muscle development.
- Vascular Ehlers-Danlos Syndrome causes people to have fragile skin that bruises easily, but more dangerously, the arteries of people with this subtype of EDS are vulnerable to rupture. People with vascular EDS are often short, prone to gum recession, and have hypermobility only of the small joints.
- Kyphoscoliosis EDS causes severe scoliosis (curvature of the spine) and trouble with muscle development from an early age, among other things.
- Arthrochalasia EDS causes hypermobility and frequent hip dislocations, along with highly elastic skin and early loss of bone mass (osteopenia).
What are the risk factors for Ehlers-Danlos Syndrome?
EDS is a genetic disorder. Although there is a strong hereditary component, the exact nature of which varies from one subtype to another, that does not mean that a family history is required for a person to develop the gene mutations that cause EDS. In addition, it is interesting to note that people with EDS are more likely than the general population to be autistic. If you have recently been diagnosed with autism and have many of the symptoms of EDS, you would certainly not be the first person to explore this diagnosis as a result.
How is Ehlers-Danlos Syndrome diagnosed?
Many people who will later be diagnosed with a subtype of Ehlers-Danlos Syndrome will have discussed their symptoms, whether hypermobility, joint dislocations, a racing heart, migraines, easy bruising, digestive problems, or anything else that was clearly out of the ordinary, with medical professionals over the course of many years. When a specialist sees each symptom in isolation, it will be extremely hard for them to connect the dots, and it is quite possible to be misdiagnosed or to go undiagnosed for a long time.
When Ehlers-Danlos Syndrome is diagnosed, the process encompasses a combination of a physical exam that will look for the key physical features, such as hyper-extendability of the skin and joint hypermobility, a look at your family history, lab tests, and imaging tests such as MRI and CT scans.
What should you do if you suspect that you could have Ehlers-Danlos Syndrome but remain undiagnosed?
Anyone who has been plagued by a set of debilitating symptoms for years is bound to want answers — and deserve them. While we might hope that it only takes going to the doctor to begin finding out what's going on, that's not always what happens. If, for whatever reason, you have spent an inordinate amount of time investigating the possibility that you could have a subtype of EDS, but your doctor has not picked up on this despite ample appointments, you, as a proactive patient, should feel absolutely free to bring this up yourself.
You may have been right about your suspected diagnosis — and begin to benefit from treatments (which vary according to subtype) such as physical therapy, pain management, and even surgery. You may also receive another diagnosis, since other conditions can also cause many of the same symptoms. Whatever happens, as a patient you should have the right to know what your diagnosis is, so that you can manage it in the best possible way. Don't stop advocating for yourself!
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