Ehlers Danlos Syndrome

Written by April Kahn | Published on June 25, 2012
Medically Reviewed by Brenda B. Spriggs, MD, MPH, FACP

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 is made up of cells, fibrous material, and a protein called collagen. Ehlers-Danlos syndrome is caused by a defect in collagen production. This condition is caused by a group of genetic disorders.

There are six major types of Ehlers-Danlos syndrome:

  • arthrochalasia
  • classic
  • dermatosparaxis
  • hypermobility
  • kyphoscoliosis
  • vascular

The area affected differs with each type of EDS. However, they all have one thing in common: hypermobility. Hypermobility is an unusually large range of movement in the joints.

The hypermobility and classic types of Ehlers-Danlos syndrome are the most common. The other types are rare, with the dermatosparaxis type affecting only 12 children on record worldwide. According to the Genetics Home Reference, EDS is seen in 1 in 5,000 people worldwide (Genetics Home Reference, 2006).

What Causes EDS?

EDS is an inherited condition passed on to a baby by a defective gene from both parents.

Defects in the following genes cause EDS:

  • ADAMTS2 (provides instructions for making the proteins that work with collagen)
  • COL1A1 (provides instructions on how to assemble collagen)
  • COL1A2 (provides instructions on how to assemble collagen)
  • COL3A1 (provides instructions on how to assemble collagen)
  • COL5A1 (provides instructions on how to assemble collagen)
  • COL6A2 (provides instructions on how to assemble collagen)
  • PLOD1 (provides instructions on how to assemble collagen)
  • TNXB (provides instructions on how to assemble collagen)

Defects in these genes weaken the process and formation of collagen. Collagen is made up of molecules that give structure to connective tissues in the body.

What Are the Symptoms of EDS?

Parents are often silent carriers of the defective gene that causes EDS. This means the parents may not show any signs of the condition, and are unaware that they are carriers of the defective gene. Symptoms of classical EDS are:

  • 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 the pressure areas (such as the elbows and knees)
  • heart valve problems

Symptoms of hypermobility EDS are:

  • loose joints
  • easy bruising
  • muscle pain
  • muscle fatigue
  • chronic degenerative joint disease
  • premature osteoarthritis
  • chronic pain
  • heart valve problems

Symptoms of vascular EDS are:

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

How Is EDS Diagnosed?

A series of tests may be used to diagnose EDS. They include genetic tests, skin biopsy, and echochardiogram. 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 DNA test can confirm if the gene is present in embryos as well. This form of testing is done when the woman’s eggs are fertilized outside of her body (in-vitro fertilization).

A skin biopsy is used to check for signs of abnormalities in collagen production. This is performed by removing a small sample of skin and checking it under a microscope.

How Is EDS Treated?

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.

Take these steps to prevent injuries and to protect your joints:

  • Avoid contact sports.
  • Avoid lifting weights.
  • Put adequate padding on your child before they ride a bike or when they are learning to walk.
  • Use sunscreen to protect the skin.
  • Avoid harsh soaps that may over-dry the skin or cause allergic reactions.
  • Use assistive devices to minimize pressure on your joints.

Potential Complications of EDS

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
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