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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 can cause problems with skin, bones, blood vessels, and internal organs.

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

The most common type of EDS, called hypermobile EDS, has been linked to various conditions that affect the brain and the central nervous system.

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

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.

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 other parts of the body.

Although EDS’s most apparent symptoms show up in the joints and skin, there is a link between EDS and the increased risk of some brain-related complications. EDS, especially the hypermobile and classical forms of the disorder, may cause problems with brain or spine development when weak connective tissue leads to damage or malformation of nerve cells. Scientists don’t fully understand how a connective-tissue disorder impacts the central nervous system, but research aims to discover the relationship(s).

Brain-Related Effects of Ehlers-Danlos Syndrome

People with EDS have a higher risk of several different brain-related conditions. The hypermobile and classical forms of the disorder produce the greatest risk of brain complications, but other forms of EDS are sometimes associated with central nervous system disorders.

  • 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 condition’s cause is not understood, but some reports have suggested there may be a link between IIH and EDS.
  • Brain aneurysms. Vascular type EDA causes 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 a part of the body where constant blood flow is critical. Vascular EDS patients are at risk of aneurysms in the aorta (the main artery that carries blood from the heart), and some studies have found that they are also at increased risk of brain aneurysms.
  • Headaches. People with EDS have a higher rate of migraine headaches than the general population. Scientists don’t yet understand the possible connection between EDS and headaches.

Some other neurological symptoms have been associated with EDS. These symptoms have been observed in a small number of cases, and researchers have not yet determined what causes the symptoms. However, the association with EDS suggests that the symptoms may result from the disorder’s effects on the brain and the nervous system. Potential brain-related symptoms include:

  • Fatigue
  • Sleep disruptions
  • Concentration problems
  • Muscle weakness
  • Stroke
  • Epilepsy

In addition to brain-related complications, EDS has also been associated with problems in the spine and other parts of the central nervous system, including:

  • Kyphoscoliotic type EDS often causes profound, progressive curvature of the spine. When it is severe, this curvature can cause problems with breathing, digestion, and movement.
  • Craniocervical and spinal instability. EDS can cause instability in the joints between the skull and spine and between the spine’s bones. 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 scientists haven’t yet found a definitive connection.

Other Symptoms of 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. In addition, 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. As a result, sufferers bruise easily, and wounds may split open easily and heal with a distinctive wrinkled scar pattern. In addition, repairing wounds in the skin can be difficult because the skin may not hold stitches without tearing.

Other Types of Ehlers-Danlos Syndrome

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

  • Spondylodysplastic type EDS causes skeletal abnormalities such as short stature and bowed limbs.
  • Periodontal type EDS causes abnormalities in the gums that lead to tooth loss and other complications.
  • Cardiac-valvular type EDS causes abnormalities in the heart that severely hinder the organ’s function.

What Causes Ehlers-Danlos Syndrome?

EDS is caused by abnormal changes (mutations) in genes that influence the body’s production of vital chemical compounds. For example, 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.

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 EDS cases are inherited; sometimes, the disorder-causing mutations occur spontaneously when the patient has no family history of the disorder. However, many EDS types 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 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.

How is Ehlers-Danlos Syndrome Detected?

An early diagnosis of EDS is essential to begin the correct course of treatment 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
  • Tendency to bruise easily
  • Nosebleeds
  • Joint dislocations
  • Jaw pain or dislocation
  • Early, severe gum disease or other dental problems

How is Ehlers-Danlos Syndrome Diagnosed?

The prominent symptoms of some EDS types can make diagnosis relatively straightforward, especially if there is a family history of the disorder. However, the condition 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 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 EDS types have very similar symptoms, and the symptoms might also resemble 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.

How is Ehlers-Danlos Syndrome Treated?

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

  • Physical therapy. Programs of physical therapy can help to build 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. Therefore, 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.

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)

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 have a family history of EDS, a genetic counselor can help you assess the risk of passing the disorder on to your children.

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. Ensure 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.

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 affect 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. For example, one study found an aneurysm rate of 12% in its participants with EDS 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.

Ehlers-Danlos Syndrome Research

Title: Integrative Medicine for Hypermobility Spectrum Disorder and Ehlers-Danlos Syndromes (IMforHSDandEDS)

Stage: Recruiting

Contact: Sara Guedry 

National University of Natural Medicine

Portland, OR

This study aims to assess the feasibility of conducting a 9-week integrative medicine program that is comprised of a prescribed anti-inflammatory (Mediterranean) diet, as well as general behavioral and psychosocial support among patients with Hypermobility Spectrum Disorder (HSD) or Ehlers-Danlos syndromes (EDS), to determine the recruitment potential in this population and to measure the ability of individuals to complete the program. Participants will be prescribed a food plan; adherence to and feasibility of the food plan will be measured through participant food tracking and a subjective assessment of the food plan in a brief satisfaction survey.

This study aims to recruit 20 patients with HSD or EDS and make preliminary observations regarding the effects of integrative medical care on pain reduction and improved quality of life.

 

Title: Genetics of Ehlers-Danlos Syndrome

Stage: Recruiting

Principal investigator: Michael Holick, MD PhD 

Boston Medical Center

Boston, MA

Blood and saliva samples will be collected for DNA extraction and used for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick’s clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports these diagnoses. In addition, subjects’ peripheral vein blood and saliva will be taken. No clinical intervention/randomizations will be performed. No patients’ identifiers will be reported.

In this pilot study, genomic DNA will be extracted and used for genotyping as sequencing in 30 EDS patients and their 30 relatives with or without EDS to compare genetic variations between them. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS. After all validation testing, the saliva DNA will be evaluated in a similar manner and compared with those results obtained from the blood sample DNA testing. The purpose is that if they are comparable, saliva will be used in place of blood as it is an easier method for accessing a person’s DNA.  This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn. NOTE: Results of this study will not be disclosed to subjects.

 

Title: Two Point Discrimination (TPD)

Stage: Recruiting

Principal investigator:  Robert C Coghill, PhD

Children’s Hospital Medical Center

Cincinnati, OH

Pain in both youth and adults is a complex, subjective and personal experience, and remains poorly understood. One particularly perplexing dimension of some forms of pain is the tendency of pain to spread outside of an affected body site to an adjacent location, and then to unaffected body sites. Such widespread pain may reflect an altered spatial tuning of somatosensory processing, such that lateral inhibition is diminished, thereby allowing pain to spread. Unfortunately, to date, no therapies exist which are designed specifically to reduce or even reverse the spatial spread of pain. However, training in two-point discrimination holds the potential to retune spatial aspects of somatosensory processing and may represent a novel therapy for widespread pain. Thus, the present investigation will test the following aims:

Aim 1. Do youth with chronic pain have disrupted spatial tuning of somatosensory processing? Deficits in two-point tactile discrimination have long been noted in adults with chronic pain, but such deficits remain poorly documented in pediatric chronic pain patients. To determine if such deficits exist, youth with both chronic pain and healthy youth will undergo an assessment of two-point discrimination thresholds.

Aim 2. Does two-point discrimination training result in diminished pain and disability in youth with somatic pain? After initial characterization of tactile discrimination thresholds, youth with chronic pain will participate in multiple sessions of either two-point discrimination training or a single-point spatially-directed attentional control condition. Training will involve up to 9 additional sessions. Efficacy of training will be assessed by 1) reductions in the spatial extent of pain, 2) reductions in pain intensity and unpleasantness, and 3) reductions in pain-related disability.

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