What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is an inherited condition that affects the connective tissues in the body. Connective tissue is responsible for supporting and structuring the skin, blood vessels, bones, and organs. It’s made up of cells, fibrous material, and a protein called collagen. A group of genetic disorders cause Ehlers-Danlos syndrome, which results in a defect in collagen production.

Recently, 13 major types of Ehlers-Danlos syndrome have been subtyped. These include:

  • classic
  • classic-like
  • cardiac-valvular
  • vascular
  • hypermobile
  • arthrochalasia
  • dermatosparaxis
  • kyphoscoliotic
  • brittle cornea
  • spondylodysplastic
  • musculocontractural
  • myopathic
  • periodontal

Each type of EDS affects different areas of the body. However, all types of EDS have one thing in common: hypermobility. Hypermobility is an unusually large range of movement in the joints.

According to the National Library of Medicine’s Genetics Home Reference, EDS affects 1 in 5,000 people worldwide. Hypermobility and classic types of Ehlers-Danlos syndrome are the most common. The other types are rare. For example, dermatosparaxis affects only about 12 children worldwide.

In most cases EDS is an inherited condition. The minority of cases are not inherited. This means that they occur via spontaneous gene mutations. Defects in the genes weaken the process and formation of collagen.

All of the genes listed below provide instructions on how to assemble collagen, except for ADAMTS2. That gene provides instructions for making the proteins that work with collagen. The genes that can cause EDS, while not a complete list, include:

  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL6A2
  • PLOD1
  • TNXB

Parents are sometimes silent carriers of the defective genes that cause EDS. This means the parents may not have any symptoms of the condition. And they’re unaware they’re carriers of a defective gene. Other times, the gene cause is dominant and can cause symptoms.

Symptoms of classic EDS

  • loose joints
  • highly elastic, velvety skin
  • fragile skin
  • skin that bruises easily
  • redundant skin folds on the eyes
  • muscle pain
  • muscle fatigue
  • benign growths on pressure areas, like elbows and knees
  • heart valve problems

Symptoms of hypermobile EDS (hEDS)

Symptoms of vascular EDS

  • fragile blood vessels
  • thin skin
  • transparent skin
  • thin nose
  • protruding eyes
  • thin lips
  • sunken cheeks
  • small chin
  • collapsed lung
  • heart valve problems

Doctors may use a series of tests to diagnose EDS (except for hEDS), or rule out other similar conditions. These tests include genetic tests, skin biopsy, and echocardiogram. An echocardiogram uses sound waves to create moving images of the heart. This will show the doctor if there are any abnormalities present.

A blood sample is taken from your arm and tested for mutations in certain genes. A skin biopsy is used to check for signs of abnormalities in collagen production. This involves removing a small sample of skin and checking it under a microscope.

A DNA test can also confirm if a defective gene is present in an embryo. This form of testing is done when a woman’s eggs are fertilized outside of her body (in vitro fertilization).

Current treatment options for EDS include:

  • physical therapy (used to rehabilitate those with joint and muscle instability)
  • surgery to repair damaged joints
  • drugs to minimize pain

Additional treatment options may be available depending on the amount of pain you are experiencing or any additional symptoms.

You can also take these steps to prevent injuries and protect your joints:

  • Avoid contact sports.
  • Avoid lifting weights.
  • Use sunscreen to protect the skin.
  • Avoid harsh soaps that may overdry the skin or cause allergic reactions.
  • Use assistive devices to minimize pressure on your joints.

Also, if your child has EDS, follow these steps to prevent injuries and protect their joints. In addition, put adequate padding on your child before they ride a bike or are learning to walk.

Complications of EDS may include:

  • chronic joint pain
  • joint dislocation
  • early onset arthritis
  • slow healing of wounds, leading to prominent scarring
  • surgical wounds that have a hard time healing

If you suspect you have EDS based on symptoms you’re experiencing, it’s import to visit your doctor. They will be able to diagnose you with a few tests or by ruling out other similar conditions.

If you are diagnosed with the condition, your doctor will work with you to develop a treatment plan. In additional, there are several steps you can take to prevent injury.