Ehlers-Danlos Syndrome in Children | Diagnosis & Treatment (2024)

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 and 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:

• Hypermobile (hEDS)
• Classic (cEDS)
• Vascular (vEDS)

Hypermobile EDS

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 becomes more widespread and chronic with age.
• Easy bruising, nosebleeds, heavy periods and wounds that are slow to heal.
• Dental issues and pain (crowding of teeth, cavities, receding and bleeding gums, jaw pain).
• Headaches
• Feeling dizzy when standing up, fainting, racing heartbeat
• Trouble sleeping, anxiety, depression
• GI problems (reflux, constipation, diarrhea, trouble with digestion, irritable bowel syndrome)

Making a diagnosis for hEDS:

There is no genetic test for hEDS. The diagnosis is based on physical exam and medical / family histories. This type of EDS is common. The diagnosis is made after other possible causes of symptoms are ruled out. It is recommended that you find a doctor who has experience treating hEDS; however, the expertise of a geneticist is not needed to diagnose or treat hEDS. If symptoms of Classic or Vascular EDS are present, referral to a geneticist should be pursued.

Classic EDS

The second most common type of EDS is the classic type.

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% 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

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 rupturing of organs like the intestine, uterus, or medium-sized arteries.
• Very loose small joints (fingers), but most often the large joints (knees, elbows, hips, shoulders) are not affected.
• Distinct facial look with a thin nose, thin lips and hollow-looking cheeks
• Thin skin that allows you to see the blood vessels.
• Normal scar formation
• Extensive bruising

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% chance of people with features of vascular EDS having a change found through testing.

Treatment and 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 EDS

Most types of EDS are inherited in an autosomal dominant manner. This means there is a 50% 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.

Hypermobility Spectrum Disorder (HSD)

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 HSD. This affects at least 10% of the general population.

Making a diagnosis for HSD:

There is no genetic test for HSD. The diagnosis is based on physical exam and medical / family histories. HSD 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. People who are considered to have HSD typically have the following scores:

• Greater than six for pre-pubertal children and adolescents
• Greater than five for pubertal men and women to age 50
• Greater than four for men and women over the age of 50

Some patients with GJH (about 1% of the general population) will meet criteria for hypermobile Ehlers-Danlos syndrome (hEDS) over time. More information about hEDS is listed above. It is not always possible to tell which children with HSD will one day develop hEDS.

If you have any of these symptoms, talk to a healthcare provider.

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