What Is Ehlers-Danlos Syndrome?
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. Ehlers-Danlos syndrome is caused by a
defect in collagen production. This condition is caused by a group of genetic
are six major types of Ehlers-Danlos syndrome:
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.
hypermobility and classic types of Ehlers-Danlos syndrome are the most common.
The other types are rare, with the dermatosparaxis type affecting only about a
dozen children on record worldwide. According to the National Library of
Medicine’s Genetics Home Reference,
EDS is seen in 1 in 5,000 people worldwide.
What Causes EDS?
EDS is, in most cases an
inherited condition, while a minority of cases are not inherited (meaning that
they occur via spontaneous gene mutations).
in the following genes cause EDS. All of these genes provide instructions on
how to assemble collagen — except for ADAMTS2, which provides instructions for
making the proteins that work with collagen.
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?
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 classic EDS are:
elastic, velvety skin
that bruises easily
skin folds on the eyes
growths on the pressure areas (such as the elbows and knees)
of hypermobility EDS are:
degenerative joint disease
of vascular EDS are:
How Is EDS Diagnosed?
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
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
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
How Is EDS Treated?
treatment options for EDS include:
therapy (used to rehabilitate those with joint and muscle instability)
to repair damaged joints
to minimize pain
treatment options may be available depending on the amount of pain you are
experiencing or any additional symptoms.
these steps to prevent injuries and to protect your joints:
adequate padding on your child before they ride a bike or when they are
learning to walk.
sunscreen to protect the skin.
harsh soaps that may over-dry the skin or cause allergic reactions.
assistive devices to minimize pressure on your joints.
Potential Complications of EDS
of EDS may include:
healing of wounds, leading to prominent scarring
wounds that have a hard time healing