EHLERS DANLOS AWARENESS ASSOCIATION
SHOE DRIVE CURRENT COUNT:
450 of 2500 pairs
DEADLINE: JANUARY 15, 2021
WHAT IS EHLERS DANLOS?
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues that support the skin, bones, blood vessels, and many other organs and tissues and can be inherited.
Presently, there are 13 known major types of Ehlers Danlos Syndromes.
Each type of EDS may affect different areas of the body. However, general characteristics of EDS normally include hypermobility, skin hyperextension and tissue fragility.
Types of Ehlers Danlos Syndromes
Hypermobility Type is the Most Common Type - Up to 1 person in 10,000 may have this form of the illness called the hypermobility type"
"In the classical type of EDS, your skin is smooth, extremely stretchy, and fragile. People with this type often have scars on the skin over their knees and elbows and bruise easily. They also are likely to have sprains, dislocations, or conditions like flat feet as well as problems with a heart valve or artery. This form of EDS happens in about 1 of every 20,000 to 40,000 people. But some people may have a mild form of the disease and not know it."
"About 1 person in 250,000 is born with the vascular type of EDS. This type weakens blood vessels and makes your organs more likely to have a tear."
"Other types of Ehlers-Danlos syndrome are very rare."
"The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide."
What are the symptoms?
EACH FORM OF EHLERS DANLOS SYNDROME IS CHARACTERIZED BY ITS OWN SIGNS AND SYMPTOMS WHICH CAN INCLUDE:
Soft, velvety skin that is highly stretchy (elastic) and fragile
Weak muscle tone (hypotonia)
Unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially life-threatening complications
Increased risk of organ and vessel rupture, including tearing of the intestine and rupture of the uterus during pregnancy
Heart valve problems
- Muscle pain
- Muscle fatigue
Chronic degenerative joint disease
Redundant skin folds on the eye
Thin nose, thin skin, thin lips, transparent skin, small chin, prominent eyes
"Common manifestations of EDS include joint pain, joint dislocations, migraines, gastrointestinal problems, numbness, and unpredictable allergic reactions. Many patients develop postural orthostatic tachycardia syndrome (POTS), a condition characterized by dizziness with standing or exertion."
There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications.
How is it diagnosed?
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).