What is Ehlers-Danlos Syndrome?

What is Ehlers-Danlos (EDS)? What causes EDS? Can it be cured? How do they test for EDS? All these questions and more are answered in this post.

What is Ehlers-Danlos Syndrome?

EDS is not a single condition, but rather a group of disorders that classify as connective tissue disease. Connective tissues are like the glue that holds the human body together--they are both fluids and more solid matter that are the building blocks of bones, skin, tendons, ligaments, and the framework for internal organs.
In EDS, the type of cell affected is called collagen. EDS patients have collagen that's either defective or in short supply. Current estimates are at least 1 in 5000 people have some type of EDS.
Imagine a building that's missing some nails and screws. Some of the support beams have holes in them, the plumbing is rusty, and the protective coating around the wires is worn down. The ceiling and walls aren't strong enough to support the weight. The weatherstripping around the windows and doors has disintegrated. In other words, the whole house is affected, and you don't know what's going to break, fall apart, or collapse.
That's kind of what it's like living with EDS. Humans bodies need to produce collagen for their bodies to work correctly, and without the right amount, there is a lot of instability in the body.

Types of Ehlers-Danlos Syndrome

The current EDS guidelines (as of 2017) list 13 main subtypes with primary characteristics:
Hypermobile EDS - Joint hypermobility and chronic pain.
Classical EDS - Joint hypermobility and very stretchy skin, as well as pseudotumors and cysts on the limbs.
Vascular EDS - Extremely fragile skin. Arteries and other internal organs are at higher risk of rupture.
Kyphoscoliosis EDS - Progressive scoliosis (irregular curvature of the spine) present from birth, along with hypotonia (very low muscle tone).
Arthrochalasia EDS - Severe joint hypermobility, congenital (present at birth) hip dysplasia (dislocation).
Dermatosparaxis EDS - Extremely fragile and saggy skin, prone to scarring.
Brittle Cornea Syndrome (BCS) - Thin cornea (outer layer of the eye; affects vision), leading to fragility and scarring. Discolored sclera (white of the eye).
Classical-like EDS - Stretchy skin, velvety skin texture (without scarring), joint hypermobility, easy bruising, spontaneous bruising.
Spondylodysplastic EDS - Short stature, muscle hypotonia, bowed limbs.
Musculocontractural EDS - Multiple congenital contractures, leading to muscular disorders such as clubfoot.
Myopathic EDS - Congenital muscle weakness or atrophy that improves with age.
Periodontal EDS - Severe, early-onset periodontitis (inflammation of the gums; infection can spread to bones of the jaw).
Cardio-valvular EDS - Severe, progressive dysfunction of the heart valves (mitral or aortic).
There are possibly some rarer subtypes, but they are less well-defined.

Other common symptoms of Ehlers-Danlos

Whether diagnosed or not, children with EDS are more likely to have a significant amount of "growing pains." Chronic pain, in general, is quite common among people with Ehlers-Danlos, although one can also carry the diagnosis and not have pain.
Another common theme among EDS patients is severe, debilitating fatigue. They may be diagnosed with Chronic Fatigue Syndrome or Fibromyalgia, but the EDS is missed.
People with EDS also frequently have complicated medical histories, with other, related and unrelated diagnoses. For example, dysautonomia and digestive orders often occur, as both the nervous and digestive systems are susceptible to dysfunction due to faulty collagen.
(Related post: What is Dysautonomia?)
Unsurprisingly, anxiety, depression, and low quality of life occur in symptomatic EDS. Scroll back up to my description of the house; think how it would feel if that house was your body.

What causes Ehlers-Danlos Syndrome?

EDS can be inherited; depending on the type, one or both parents would pass the condition down to children. In other subtypes, the disease originates with a mutation in the patient, and there is no family history of EDS.
Currently, we know that there are several genes associated with Ehlers-Danlos Syndrome. Some genes are only related to specific subtypes. At this time, some types are not linked to any particular genes. Other classes are familial diseases, but how they are inherited is not understood. Lastly, some people are carriers of genes; they don't exhibit symptoms themselves, but their descendants may have EDS.

How is Ehlers-Danlos Syndrome diagnosed?

People are born with EDS, but not all are diagnosed right away. Some people carry a diagnosis but are asymptomatic. One doctor told me that he often saw diagnoses occur in older children and adults after a series of injuries. The patient would get hurt over and over (often in the same part of the body, and injuries would not heal properly). It would prompt doctors to look further, and then Ehlers-Danlos would be discovered.
A preliminary diagnosis is often made based on the presence of chronic pain, hypermobile joints, and family history; a checklist with the 2017 criteria was developed for healthcare providers to use. Further classification occurs through genetic testing. These blood tests are useful because subtypes have different associated risks. However, a physician can start to take steps to treat a patient after a physical examination without genetic testing.
Sadly, the medical community is not as familiar with EDS, its diagnosis, and how to treat it as they should be. Many doctors I encounter have only read about EDS in textbooks and are thrilled to meet someone in person finally. They then go about Googling my condition and what to do about it, because they have no first-hand experience.
It can sometimes take 10-20 years for an EDS diagnosis to come, and it is not uncommon for patients to be in their 40s before they finally get the correct diagnosis. In medicine, doctors in training are often told: “When you hear hoofbeats, think horses, not zebras.” This means to look for the obvious choice, not the rarer ones. Unfortunately, this means that doctors may end up disregarding or refusing to consider a rarer condition as a possibility. This can lead to unnecessary suffering on the part of a patient because their doctor is unwilling to think outside the box.
Because Ehlers-Danlos Syndrome is still considered a rare disease, the symbol taken on to represent it is a zebra or zebra stripes, and people with rare diagnoses call themselves "zebras." Sometimes, when you hear hoofbeats it is a zebra, not a horse. Just because something is rare doesn’t mean it never occurs.

How do you treat Ehlers-Danlos Syndrome?

Treatment varies based on individual symptoms. Even if two people have the same subtype of EDS, that doesn't mean they will need the same care.
Two things that are important for any patient with hypermobile joints are physical therapy and pain management. These need to be handled by specialists who are experienced in the management of people with EDS, because what works for most people can make someone with EDS worse.
For example, stretching can cause someone with EDS further injury and increased pain. EDS patients also lose muscle tone very quickly--within 24-48 hours, muscles can atrophy. So physical therapy must be performed daily or at least every other day, and for the rest of the patient's life, to maintain any progress they make. Also, because they are more susceptible to injury, caution should be used when selecting exercises and ensuring modifications are made to accommodate any existing weaknesses or areas of pain. "Working through the pain" is not the right approach; flare-ups should be addressed immediately before permanent damage occurs.
Regarding pain management, massage, chiropractic, and other methods of joint mobilization should likewise be avoided or undertaken only by an EDS expert. Chiropractic adjustments typically do not "take," and can result in a further exacerbation.
Pain medication is also a tricky area. EDS sufferers often have high interoception, meaning they are hyper-aware of what's happening internally; therefore, their pain levels are high, and their pain tolerance is low. Other factors of concern with medication:
  • Patients may metabolize drugs differently; the effects will either wear off faster or be exaggerated. For example, a drug that works at first for a week or two may stop working. Or, one that sometimes causes drowsiness will leave the patient completely unable to function due to persistent somnolence.
  • Due to joint instability and gait problems, extra care must be taken when prescribing medications that may affect balance or cause drowsiness.
  • Patients who also have dysautonomia may be at higher risk for adverse drug reactions and/or drug interactions.
  • EDS sufferers should also be evaluated for depression before prescribing narcotics. Many people with EDS have depression related both to their symptoms and lack of adequate care. Suicidal thoughts can occur if they feel hopeless enough; management of these feelings through physician compassion, family and community support, and counseling is essential.
Other common traits among those with EDS are the need for a gastroenterologist (for digestive issues), neurologist (for dysautonomia and other nerve dysfunction), a cardiologist, counseling, regular eye exams, and a dietitian/nutritionist. Chronically ill patients with digestive dysfunction may need more help with getting proper nutrients through methods other than standard oral consumption.

Is there a cure for Ehlers-Danlos Syndrome?

Unfortunately, there is no cure for any subtype of EDS. Managing and treating symptoms as they come up and having strong emotional support is key to having the best life possible with Ehlers-Danlos.

Can you die from Ehlers-Danlos Syndrome?

Symptoms of EDS can lead to death. For example, the higher risk of tearing or rupture of blood vessels or organs can be fatal. That's why it's essential to have any new symptoms evaluated by a medical professional right away.

What can I do if I think I have Ehlers-Danlos Syndrome?

The most important first step is to have a good primary care physician who is knowledgeable about EDS or willing to refer you to someone who is. The two types of specialists who are most familiar with EDS are rheumatologists and geneticists.
But patients must also be our own advocates, because we may not get the help or diagnosis we need right away. Learn as much as you can about your symptoms and their causes, and bring notes with you to your doctor appointments. Doctors work better with facts than feelings. If you are prone to memory problems, write out a history of your symptoms, what tests have been done, what medications were tried, what worked and what didn't. Have it with you, so you don't have to remember the answers to questions off the top of your head.
If your doctor is dismissive of your symptoms, suggests they are "all in your head" or says there is no answer for what's wrong with you, find another doctor. You have a right to be treated with respect and consideration. You know how you're feeling within your body, and you need to find a doctor who will listen to you and respond appropriately.

Living with Ehlers-Danlos Syndrome

It isn't easy having a permanent chronic condition. But it isn't going away, so the best thing you can do for yourself is not ever to give up. You are a person of value and deserve to have love, enjoyment, and proper health care, just like anyone else.
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