Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of disorders involving connective tissue.  Connective tissue is what provides the body support, structure, stability and normal scar formation.  Most people with EDS have loose joints, sometimes called “double-jointedness,” due to the abnormal connective tissue. 

Hypermobility syndrome is a disorder in which hypermobile joints contribute to chronic pain.  Any cause of hypermobile joints can result in hypermobility syndrome.  The most common cause of hypermobility is Ehlers-Danlos hypermobility type.  Because of this, for most people there is no difference between hypermobility syndrome and Ehlers-Danlos hypermobility type.

Joint hypermobility, or having very loose joints, is determined by having a score of five or more on a nine-point scale, called the Beighton scale. You are given one point for each of the following:

  • Being able to bend your little finger back beyond 90 degrees (one point per finger)
  • Being able to push each thumb to the front of your forearm (one point per thumb)
  • Being able to bend your elbow backwards, or hyperextend it (one point per elbow)
  • Being able to bend your knee backwards, or hyperextend it (one point per knee)
  • Being able to place the palms of your hands on the floor while keeping your legs straight

You may also have hypermobility in other joints that are not part of the formal scoring system, such as the shoulders and the jaw.

There are several different types of EDS.  While there are some symptoms that are the same, each type of EDS is different.  For all types of EDS, diagnosis is based on medical and family histories and a physical exam. 

If you think that you or someone you know may have any type of EDS, see a doctor who treats patients with connective tissue disorders.  

The three most common types of EDS are:

  • Hypermobile
  • Classic
  • Vascular

Hypermobile EDS  

People with EDS hypermobile type (EDS-HT, previously EDS III) will have very loose joints and soft, velvety skin without unusual stretchiness or wounding / tearing.   EDS-HT is the most common type of EDS.  Common medical problems include:

  • Joint dislocates or separates (called subluxation) with mild trauma
  • Pain, which first appears as “growing pains” in young children, but can become more widespread and chronic in teens and older individuals.  Pain is caused by the overall joint instability. Physical therapy and nonsteroidal anti-inflammatory medications are the main treatment for this pain.  Surgery may give only temporary relief since the joints often become unstable again. 
  • Skin wounds may take more time to heal, and sometimes sutures from surgery will not hold a wound closed.  Scars may stretch and widen. Stretch marks often occur.
  • Bruising easily and nosebleeds and heavy periods may be common.
  • May have dental issues, like high palate with dental crowding, poor enamel, multiple cavities, receding gums, bleeding gums, periodontal disease 
  • Jaw pain and dislocation are common and can lead to temporomandibular joint disorders (TMJ).
  • Feeling dizzy, faint or “blacking out” when you stand up is common. This happens because the blood vessels do not react quickly enough to the shift in blood pressure when going from sitting to standing.
  • Frequent headaches
  • GI issues, such as acid reflux, irritable bowel syndrome (IBS) and gastroparesis 

There is no genetic test for EDS-HT.  The diagnosis is based on physical exam and medical and family histories.  It is important that you find a doctor who has experience treating EDS-HT. 

Classic EDS

The second most common type of EDS is the classic type (previously known as EDS type I and II).  Classic EDS is similar to EDS-HT and patients will have:

  • Loose joints
  • Skin that is stretchy and has a soft velvety texture
  • Fragile skin that bruises easily
  • Poor wound healing and paper thin scars 

Joint hypermobility can lead to early osteoarthritis and chronic pain.  Some patients with classic EDS have heart issues that may include mitral valve prolapse and enlargement of the aortic root.  

Diagnosis of classic EDS can be made based on clinical findings. Genetic testing is available for classic EDS (generally performed on a blood sample).  There are two collagen genes that are known to cause classic EDS, COL5A1and COL5A2.  You need only to have a change in one copy of one of those genes to have classic EDS.   

Vascular EDS

Vascular EDS is quite rare and is the most serious type of EDS. This type of EDS is very different from EDS-HT and Classic EDS.  A doctor who handles patients with EDS can tell if a person has vascular EDS.

Individuals with vascular EDS have:

  • Distinct facial appearance with a thin nose, thin lips and hollow-appearing cheeks
  • Thin “see-through” skin – can see blood vessels just beneath the skin in areas that are not typical
  • Very loose small joints (fingers), but usually not the large joints (knees, elbows, hips, shoulders)
  • Normal scar formation
  • Skin that bruises easily.  It can lead to brown iron deposits in the skin.
  • High risk for life-threatening rupture of the intestine, uterus, or medium-sized arteries. Stroke and uterine rupture following delivery can occur.  

Diagnosis for vascular EDS is made based on clinical exam, family history, and the presence of a change in one copy of the COL3A1 gene. 

Although there is no “cure” for EDS, there are treatments to help with many of the symptoms.  Since EDS can affect people in different ways, the treatment is tailored to each person.  Physical therapy is the main treatment for the joint-related issues associated with EDS.  

Most types of EDS are inherited in an autosomal dominant manner, which means there is a 50 percent chance it can be passed from a parent to a child.   While an equal amount of males and females can have the genetic trait, with the hypermobile type, women tend to have more symptoms, so there often appears to be a bias in the number of women affected compared to men. The type of EDS remains the same within a family, so all affected members in a family will have the same type of EDS. 

Last Updated 05/2015