What Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome, or EDS, is a group of related diseases affecting human connective tissue. Connective tissue provides structural support for much of the body, including skin, bones, and organs. EDS is inherited, meaning that it is caused by a genetic disorder. There are a range of symptoms, but hypermobility, or overly flexible joints, is common to all. Thin, fragile, and easily stretched skin is another prominent symptom.
Depending on the type of EDS, a person with this condition can expect a number of health issues, including frequent bruising, slow-healing wounds, joint pain, and early-onset arthritis. The most serious form of EDS, called vascular EDS, is potentially fatal. There is no cure for Ehlers-Danlos syndrome but Baptist Health medical specialists can provide the support you need, if you or a family member is dealing with this condition.
What Types of Ehlers-Danlos Syndrome Are There?
EDS comes in 13 primary types:
- Brittle cornea
Only the classic and hypermobile types are relatively common; the other 11 are considered rare.
What Are the Symptoms of Ehlers-Danlos Syndrome?
EDS symptoms are type-dependent and also vary by individual. The most common symptoms for the classic form of EDS are:
- Extremely flexible joints, with an unusually wide range of motion
- Skin that stretches further than most persons’
- Muscle pain and weakness
- Dark, droopy skin (“bags”) under the eyes
- Easily damaged skin, prone to bruising, scarring, and slow-healing cuts
The vascular type of EDS poses a greater risk to health than most other forms. It is marked by:
- Characteristic facial features, including a narrow nose, thin lips, sunken cheeks, smaller-than-usual ears, and protruding eyes
- Translucent, almost see-through skin
- Weakened arterial, intestinal, and, in women, uterine walls
The latter symptom is the chief source of concern. An increased likelihood of internal injury, including organ and vessel ruptures, constitutes the major medical threat to persons with vascular EDS.
What Causes Ehlers-Danlos Syndrome?
Research suggests that, in most instances, Ehlers-Danlos syndrome is a genetic disorder, meaning that it’s passed on from parents to children, even if neither parent exhibits symptoms of the disease. (There are some possible exceptions, where the precise origin of EDS remains unclear.) In most cases, the exact cause is a defective gene or genes that reduce the body’s ability to produce collagen, a structural protein that is critical to the success of connective tissue. Affected gene sites include:
- COL1A1, COL1A2, COL3A1, COL5A1, and COL6A2
Because EDS is an inherited condition, the chances of developing it rest largely on whether one or both of your parents carries a gene that has been linked to the disorder.
How Is Ehlers-Danlos Syndrome Diagnosed?
Diagnosing Ehlers-Danlos syndrome typically involves the following steps:
- Physical exam: Your physician will measure the range of motion exhibited by your joints. A greater-than-normal range – for example, an ability to bend your forearms below the elbow with your hands facing up, opposite of the normal direction – may indicate EDS. Your doctor will also examine your skin, to determine its elasticity and conduciveness to cuts, bruises, and injury.
- Family medical history: EDS has a strong genetic component, so your physician will be particularly interested in whether your parents or other family members have been diagnosed with this disorder.
- Echocardiogram: In some cases, such as vascular EDS, your symptoms may not be readily obvious. If your doctor suspects that you have issues with your heart or arteries, he or she may order an echocardiogram. Echocardiography is an imaging technology for the circulatory system that utilizes soundwaves to create pictures for medical analysis.
- Other imaging tests: X-rays, CT scans, or magnetic resonance imaging (MRI) scans can provide detailed images of joints and other structures impacted by EDS.
- Biopsy: A biopsy is the medical examination of a small sample of live cells for evidence of disease or abnormalities. A physician ordering an EDS biopsy will want to determine whether the collagen being produced by the body is normal and healthy or deficient in some manner.
It’s possible that your doctor will also refer you to a genetic specialist. He or she will conduct molecular testing to more precisely identify the type of EDS or other connective-tissue disorder that your symptoms are indicating.
How Is Ehlers-Danlos Syndrome Treated?
There is no cure for EDS but it can be successfully managed with the following:
- Pain-control medications
- Braces or other assistive devices that reinforce limb strength and limit unnecessary motion
- Physical therapy to rehabilitate stressed joints
- Surgery to repair damaged joints
- Prostheses to replace worn-out joints
If you have EDS, there are also preventive steps that you can take:
- Avoid physically demanding activities, including manual labor and contact sports
- Use mild, scent-free soaps and detergents
- Brush your teeth with soft-bristled toothbrushes
- Wear padded clothing to reduce skin abrasions
- Apply sunblock to protect your skin while outdoors
- Take daily vitamins with calcium to enhance bone strength
What Are the Complications of Ehlers-Danlos Syndrome?
Having EDS can result in a number of medical complications, including joint pain, fractures and dislocations, slow-to-heal cuts, bruises, and wounds, and various arthritic symptoms. Individuals who are properly diagnosed, however, can maintain quality-of-life, working from a treatment plan developed in conjunction with their physician.
We’re Your Connection for Treatment of EDS
Ehlers-Danlos syndrome is a serious medical condition estimated to affect as many as one in 2,500 people. While it can’t be cured, it can be controlled. If you or a loved one is exhibiting the symptoms of this disease, don’t delay in seeking medical care.
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