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Ehlers-Danlos Syndrome Fast Facts

Ehlers-Danlos syndrome (EDS) is a collective term for several disorders that affect the body’s connective tissue. The disorders cause problems with skin, bones, blood vessels, and internal organs.

Currently, 13 different types of Ehlers-Danlos syndrome are recognized.

Overall, about 1 in 5,000 people worldwide are affected by all types of  EDS.

The most common type of EDS, called hypermobile EDS, causes joints to have an unusually large range of motion.

Symptoms of EDS range from relatively mild joint and skin problems to potentially life-threatening complications.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a collective name for a group of more than a dozen disorders. The common characteristic of the disorders is that they affect the body’s connective tissue, but different types produce symptoms and complications in different parts of the body. The tissues affected by EDS give strength and flexibility to skin, joints, and blood vessels, and these are the parts of the body in which symptoms are often most prominent.

Symptoms of Hypermobile and Classical Ehlers-Danlos Syndrome

The most common forms of EDS produce symptoms that are most visible in the skin and joints. Symptoms include:

  • Loose, unusually flexible joints. Infants with this kind of EDS may have trouble sitting, standing, or walking. Joints aren’t well-supported by connective tissue, so sufferers are at risk of joint dislocation or damage. Chronic joint pain is also sometimes a symptom.
  • Soft, stretchy, fragile skin. Skin is often velvety in texture and highly elastic. Sufferers bruise easily, and wounds may split open easily and heal with a distinctive crinkly scar pattern. Repairing wounds in the skin can be difficult because the skin may be unable to hold stitches without tearing.

Brain and Spine Complications of Ehlers-Danlos Syndrome

EDS, especially the hypermobile and classical forms of the disorder, may cause problems with the brain, spine, or central nervous system when weak connective tissue leads to damage or malformation of nerve cells. The connection between EDS and some of these complications is not fully understood, but EDS sufferers appear to be at a higher risk.

  • Chiari malformation. This condition occurs when part of the brain stem develops outside the skull. Some researchers believe that weak connective tissue at the junction of the skull and spine might make the condition worse or even cause it.
  • Idiopathic intracranial hypertension (IIH). This condition is characterized by abnormally high pressure in the fluid surrounding the brain. The cause of the condition is not understood, but some reports have suggested there may be a link between IIH and EDS.
  • Headaches. EDS sufferers have a higher rate of migraine headaches than the general population. Scientists don’t yet understand the possible connection between EDS and headaches.
  • Craniocervical and spinal instability. EDS can cause instability in the joints between the skull and spine and between the bones of the spine. An abnormal degree of mobility in these joints increases the risk of damage to sensitive nerve tissue.
  • Tethered cord syndrome (TCS). TCS, which sometimes occurs in EDS patients, is a condition in which an abnormal connection develops between the spinal cord and surrounding tissue. The condition can cause pain, numbness, and other neurological complications.
  • Tarlov cyst syndrome. In this condition, fluid-filled cysts develop near the spinal cord. The cysts can put pressure on nerve tissue and cause neurological symptoms such as pain and bladder or bowel control problems. Tarlov cysts have been linked to EDS by some researchers, but a definitive connection hasn’t yet been found by scientists.

Symptoms of Vascular Type Ehlers-Danlos Syndrome

This severe, potentially life-threatening type of EDS affects the blood vessels as well as the skin and connective tissue in the joints. Symptoms of the vascular type of EDS can include:

  • Thin, fragile skin. Sufferers bruise easily, and the skin may be translucent so that blood vessels beneath the skin are easily visible.
  • Distinctive facial features. Patients with this type of the disorder often have a characteristic pattern of facial features, including a thin nose, thin lips, hollow cheeks, and prominent eyes.
  • Weakened blood vessels that are prone to rupture. The rupture of a weakened spot in a blood vessel (called an aneurysm) is especially dangerous when it occurs in the aorta (the main artery that carries blood from the heart) or in the brain.
  • Organ rupture. This type of EDS also causes internal organs to be more fragile than normal. Potentially life-threatening ruptures can occur in organs such as the intestines or in the uterus during pregnancy.

Other Types of Ehlers-Danlos Syndrome

Types of EDS that affect other parts of the body include:

  • Kyphoscoliotic type EDS often causes profound, progressive curvature of the spine.
  • Spondylodysplastic type EDS causes skeletal abnormalities such as short stature and bowed limbs.
  • Periodontal type EDS cause abnormalities in the gums that leads to tooth loss and other complications.
  • Cardiac-valvular type EDS causes abnormalities in the heart that severely hinder the organ’s function.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

What Causes Ehlers-Danlos Syndrome?

EDS is caused by abnormal changes (mutations) in genes that influence the production of vital chemical compounds in the body. Some gene mutations interfere with the normal production of collagen, a compound that gives strength and flexibility to connective tissues. Other gene mutations disrupt the process in which proteins help to build collagen. Most of the mutations that cause the different types of EDS impact the normal production of collagen in some way, leading to the symptoms in the body’s connective tissues.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Is Ehlers-Danlos Syndrome Hereditary?

EDS results from changes in genes, the building-block components of cells that children inherit from their parents. Not all cases of EDS are inherited; sometimes the disorder-causing mutations occur spontaneously when the patient has no family history of the disorder. However, many types of EDS come from a gene mutation that is passed from parents to their children.

Some types of EDS are autosomal dominant. That means the disorder will occur if a child inherits the gene mutation from either their father or mother. Autosomal dominant types of EDS include the classical, vascular, and periodontal types.Other types of EDS are autosomal recessive. In this case, a child must inherit the mutation from both their mother and their father for the disorder to occur. It’s common for the parents to each have only one copy of the gene mutation, and in that case, the parents carry the potential to pass on the disorder without suffering from symptoms themselves. The cardiac-valvular, kyphoscoliotic, and spondylodysplastic types of EDS are autosomal recessive.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Ehlers-Danlos Syndrome Detected?

Early diagnosis of EDS is important so that the correct course of treatment can begin as soon as possible. The risk of serious complications can be reduced if treatment begins early. Warning signs of EDS to watch out for include:

  • Chronic joint pain
  • Slow-healing skin wounds
  • Unusual scarring
  • Unusually loose or flexible joints
  • A tendency to bruise easily
  • Nosebleeds
  • Joint dislocations
  • Jaw pain or dislocation
  • Early, severe gum disease or other dental problems

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Ehlers-Danlos Syndrome Diagnosed?

The prominent symptoms of some types of EDS can make diagnosis relatively straightforward, especially if there is a family history of the disorder. However, the disorder may escape diagnosis if family history is unknown and/or the disorder is in its early stages.

If a doctor suspects EDS, a physical exam can help to identify joint hypermobility and unusual skin elasticity. The doctor may also look for evidence of the scarring patterns that are characteristic of EDS.

The pattern of symptoms will help the doctor to determine what type of EDS might be present. However, some types of EDS have very similar symptoms, and the symptoms might also be similar to those of other connective-tissue diseases. Genetic testing may be able to identify the specific gene mutations that cause particular types of EDS.

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Ehlers-Danlos Syndrome Treated?

There is no cure for EDS. Treatment programs are geared toward managing symptoms and preventing serious complications. Some common treatment options include:

  • Physical therapy. Programs of physical therapy can help to build the muscle around joints. Stronger muscles will help stabilize the joints and reduce the risk of dislocation.
  • Blood pressure control. High blood pressure can increase the risk of bleeding, ruptured aneurysms, and organ tissue rupture in patients with the types of EDS that weaken blood vessels. Medications may be prescribed to lower blood pressure.
  • Pain management. Doctors typically recommend over-the-counter pain relievers such as ibuprofen and acetaminophen to treat chronic pain caused by EDS.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How Does Ehlers-Danlos Syndrome Progress?

The potential long-term complications of EDS vary depending on the type of the disorder the patient suffers from. Some possible complications include:

  • Joint dislocations
  • Permanent scarring
  • Early-onset arthritis
  • Mobility problems
  • Breathing difficulties (kyphoscoliotic EDS)
  • Tooth loss (periodontal EDS)
  • Potentially fatal blood vessel or organ rupture (vascular type EDS)

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Ehlers-Danlos Syndrome Prevented?

When the disorder-causing gene mutations are present, there is no way to prevent EDS. If you have EDS or you have a family history of EDS, a genetic counselor can help you to assess the risk of passing the disorder on to your children.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Ehlers-Danlos Syndrome Caregiver Tips

Coping with EDS can be especially difficult for children. The disorder can require adjustments to their lifestyle that can make them feel different and frustrated. As their caregiver, you can take steps to help them live with the disorder.

  • Be safe, but encourage activity. Discourage your child from participating in contact sports, weight lifting, or other activities that have the risk of injury. However, encourage activities such as swimming, biking, and walking, which can help build stronger, more stable joints.
  • Build a normal lifestyle. Make sure teachers and other responsible people in your child’s life know about EDS, but encourage them to treat your child in the same way they treat other children (within the bounds of safety).
  • Find outside support. Look for support from groups that understand the challenges of EDS. If support groups are not available in your area, look for resources online.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Ehlers-Danlos Syndrome Brain Science

Because EDS is a connective-tissue disorder, it is not commonly associated with the brain or the nervous system. However, there is evidence that some types of EDS can have an effect on the brain.

  • Studies have suggested that patients with EDS might be susceptible to damage to brain cells after even a mild traumatic head injury. Some research has suggested, too, that recovery from a brain injury might be slower for EDS patients.
  • Some studies have indicated that patients with EDS have a much higher risk of developing brain aneurysms. One study found an aneurysm rate of 12% in its participants with EDS, as compared to a 3.2% prevalence rate in the general population.
  • Although research is preliminary, one study has suggested a connection between periodontal EDS and leukoencephalopathy, a disease characterized by loss of white matter brain tissue.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Ehlers-Danlos Syndrome Research

Scientists are working on several research projects to expand on what is known about Ehlers-Danlos Syndrome.  The research will improve knowledge about the factors that increase the risk for Ehlers-Danlos Syndrome, as well as the causes, and best treatments, and will aid people living with Ehlers-Danlos Syndrome and their caregivers.

We are currently gathering the information required to support projects such as Genetics of Ehlers-Danlos Syndrome, Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscanand Two Point Discrimination (TPD).

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

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