Causes, Signs, Diagnosis, and Treatment for Ehlers-Danlos Syndromes

By Catherine Roberts

You likely haven’t given too much thought to your skin, joints, and blood vessels lately—unless you’ve suffered an wound that required stitches or a joint injury that put you off your game for a few weeks. However, for patients with Ehlers-Danlos syndromes, a set of inherited disorders that strike these connective tissues, living with joint hypermobility (or loose joints), super soft hyper-elastic skin, and weak and easily bruised skin is an everyday fact of life. In many cases, the severity of EDS can be life-threatening.

Here are the causes, symptoms, diagnosis, and treatment options for this invisible and often misdiagnosed group of disorders…

 

1. What are Ehlers-Danlos Syndromes?

Ehlers-Danlos Syndromes (EDS), refer to a collection of inherited disorders that weaken the body’s connective tissues—namely the skin, blood vessels, and joints. As a result patients typically have neuromuscular complications due to overly flexible joints (hypermobility), stretchy (or hyper-elastic) skin, and weak blood vessels that are prone to rupture.

According to research from the Mayo Clinic, Ehlers-Danlos syndromes are thought to be the result of a defect in the structure and/or production of collagen (or proteins that intermingle with collagen) due to a mutation of the COL5A or COL3A genes. This affects the strength and elasticity of the body’s connective tissues, causes hyper-lose joints, and even end in rupture of blood vessels, the uterus, or intestine in severe conditions.  For instance, if a EDS patient with super-velvety, fragile skin requires stitches, the skin may not be strong enough to hold them.

2. What Causes Ehlers-Danlos Syndrome?

According to statistics from the Ehlers-Danlos National Foundation, there are currently 1.5-million individuals living with EDS around the globe.  EDS strikes both males and females of every race and ethnicity. In the majority of cases, these disorders are believed to be inherited, which means they’re passed from parent to child.

For instance, Mayo Clinic researchers estimate that if one parent has vascular Ehlers-Danlos syndrome, which puts the blood vessels, uterus, and intestines at risk of rupturing, as a parent, you have a 50-percent risk of passing the same disorder onto your offspring.  Patients diagnosed with EDS are urged to seek guidance from a genetic counselor prior to starting a family.

3. Diagnosing EDS

The Ehlers-Danlos National Foundation estimates that a new EDS patient is born roughly every half hour. Sadly, most medical practitioners have very little experience with EDS, which commonly leads to misdiagnosis and, understandably, a great deal of frustration from patients.  Oftentimes, the patient is diagnosis far too late to be properly treated.

In fact, data from EDS Awareness Month in 2014, noted that patients are commonly misdiagnosed with chronic fatigue syndrome, hypochondriasis, and even depression due to lack of knowledge about this set of disorders among the medical community. To confirm an EDS diagnosis, doctors will look at your family history, examine your skin elasticity and joint mobility. Often genetic testing via a blood sample is performed after blood testing to rule out other conditions.

4. Recognizing Patients with EDS

Despite the fact that Ehlers-Danlos syndrome often takes a long time to properly diagnose, the Mayo Clinic points to a few common visual traits shared by the majority of patients with vascular subtype EDS.

For instance, patients of this subtype tend to have fair skin with blood vessels that are distinctive through the skin. EDS patients also have prominent eyes, thin upper lips, small earlobes, very fine noses, and super soft, translucent skin that’s extremely prone to bruising.

5. Primary Signs of Ehlers-Danlos Syndrome

As EDS is made up a various subtypes, the disorders will greatly vary from patient to patient. However, a few common symptoms are typical of the skin and joints. For instance, the skin of those with EDS is often extremely velvety to the touch, crinkly in appearance, and fragile. Skin wounds and abrasions often don’t heal and stitches applied to close a wound will tear, leaving thin, furrowed scarring.

Additionally, EDS that affects joint flexibility is due to weak or too slack connective tissues.  For instance, small joints usually show the most flexibility and can move far past the normal range of motion. Small, fatty growths may also develop around smaller joints (i.e., elbows and knees). These are harmless, but may indicate an issue.

6. Secondary Symptoms of Ehlers-Danlos Syndrome

As mentioned, EDS is a series of disorders, classified by subtype. This means that while some patients exhibit hyper-mobility of joints and no skin issues—other patients may present a totally different set of skin- or vascular-related issues.

For instance, a severe form of EDS exists in vascular form. Known as Vascular Ehlers-Danlos Syndrome, this potentially-fatal form of the disorder causes weakening and potential rupture of the blood vessels and arteries of several major organs—including the walls of the large intestine, spleen, uterus, the arteries in the kidneys, and the aorta, largest artery in the heart.

7. Is There a Cure for Ehlers-Danlos Syndrome?

Sadly, there is no cure for EDS. Once properly diagnosed, treatment for the disorders is supported through physical therapy, occupational therapy, casting to stabilize joints, and even surgeries to mend frequent injuries and alleviate pain.

Doctors will may also recommend palliative care, supported by a wheelchair or other orthopedic aids (i.e., braces). Close monitoring is also imperative and depending on the EDS subtype, the patient may undergo ongoing cardiovascular, digestive, nerve, and excretory care by a specialized physician with medication prescribed to help alleviate pain as well as treat specific heart, digestive, and other EDS-related disorders.

8. Treatment Options for Ehlers-Danlos Syndrome

Treatment options for Ehlers-Danlos Syndrome will depend on the subtype suffered. For instance, in addition to the supportive and palliative treatment options outlined in the last slide (i.e., therapy aids, medication, surgery, and physical/occupational therapy) your disorder subtype will largely determine course of treatment.

For instance, your doctor may recommend aquatic therapy to treat joint and muscular EDS, electrotherapy nerve stimulation for extreme nerve pain, vitamin supplementation (i.e., ascorbic acid) for patients with severe bruising and healing of wounds. Because anxiety and depression are often the tragic side-effects for those living with chronic conditions, ongoing psychological and emotional therapies can also be helpful for patients living with EDS.

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