What is 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.” This is due to abnormal connective tissue.
Diagnosis & Types of EDS
There are several types of EDS. Though some symptoms are the same, each type of EDS is different.
If you think that you or someone you know may have any type of EDS, please see a doctor who treats patients with connective tissue disorders.
The three most common types of EDS are:
People with EDS hypermobile type (hEDS, known before as EDS III) will have very loose joints and soft, velvety skin. The most common form of EDS is hEDS.
Common symptoms include:
- Joint dislocates or separates (called subluxation) with mild trauma.
- Pain that first appears as “growing pains” in young children, but can become more widespread and chronic in teens and older people. Pain is caused by the overall joint instability.
- Skin wounds may take more time to heal. Sometimes sutures from surgery will not hold a wound closed. Scars may stretch and widen. Stretch marks often occur.
- Bruise easily, nosebleeds, and heavy periods may be common without a bleeding disorder.
- May have dental issues like high palate with dental crowding, poor enamel, many cavities, receding gums, bleeding gums, gum disease.
- Jaw pain and dislocation are common. This can lead to temporomandibular joint disorders (TMJ).
- Dysautonomia can occur. Symptoms of this include feeling dizzy, faint or “blacking out” when you stand up, racing heart, GI issues such as irritable bowel syndrome (IBS) and gastroparesis, and sleep issues.
- Frequent headaches
Making a diagnosis for hEDS:
There is no genetic test for hEDS. The diagnosis is based on physical exam and medical / family histories. It is vital that you find a doctor who has experience treating hEDS.
The second most common type of EDS is the classic type (known before as EDS type I & II).
Common symptoms include:
- Loose joints
- Very stretchy and soft skin that tears easily
- Paper thin scars
- Poor wound healing
- Chronic bruising and scarring of the shins
- Certain heart issues (mitral valve prolapse, enlarged aortic root)
Making a diagnosis for classic EDS:
The diagnosis of classic EDS can be made based on clinical findings. There is genetic testing for classic EDS (most often done on a blood sample) but there is only about a 50 percent chance of people with features of classic EDS having a change found in one of these genes. There are two collagen genes that are known to cause classic EDS, COL5A1 and COL5A2. You need only to have a change in one copy of one of those genes to have classic EDS.
Vascular EDS is quite rare and is the most severe type of EDS. This type of EDS is very different from hEDS and classic EDS. A doctor who is familiar with EDS can most often tell based on a physical exam and history if someone has vascular EDS.
Common symptoms include:
- High risk for life-threatening rupture of the intestine, uterus, or medium-sized arteries. Stroke and uterine rupture after giving birth can occur.
- Very loose small joints (fingers), but most often not the large joints (knees, elbows, hips, shoulders)
- Distinct facial look with a thin nose, thin lips and hollow-looking cheeks
- Thin “see-through” skin where blood vessels are seen just under the skin in areas that are not typical
- Normal scar formation
- Skin that bruises easily. It can lead to brown iron deposits in the skin.
Making a diagnosis for vascular EDS:
The 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. There is genetic testing for vascular EDS (most often done on a blood sample). There is more than a 95 percent chance of people with features of vascular EDS having a change found through testing.
Treatment & Management
There is no “cure” for EDS, but 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.
Genetics of EDSMost types of EDS are inherited in an autosomal dominant manner. This means there is a 50 percent chance it can be passed from a parent to a child. An equal number 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. All affected members in a family will have the same type of EDS.
Generalized Joint Hypermobility (GJH)
Many people present with signs of joint hypermobility and pain, but do not meet the criteria for any of the above types of Ehlers Danlos syndrome. This is known as generalized joint hypermobility. This affects at least 10 percent of the general population.
Making a diagnosis for GJH:
There is no genetic test for GJH. The diagnosis is based on physical exam and medical / family histories. GJH is determined based on a nine-point scale known as the Beighton Scale. This scale looks for hypermobility by checking nine joints. A point is given for each joint noted to be hypermobile. The scoring is outlined below:
- Six or greater for children over age 5 years and teens
- Five or greater for adult men and women to age 50
- Four or more for men and women over the age of 50
Some patients with GJH (about one percent of the general population) will meet criteria for Ehlers-Danlos syndrome, hypermobile type (hEDS) over time. (See more about hEDS above in “Diagnosis & Types.”) It is not always possible to tell which children with GJH will one day develop hEDS.
If you have any of these symptoms, talk to a healthcare provider.