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What is Ehlers-Danlos Syndrome (EDS)? |
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Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective
tissue disorders, characterized by articular (joint) hypermobility, skin extensibility, tissue
fragility, easy bruisability of the skin and a bleeding diathesis (tendency). EDS is named
for two physicians (Ehlers and Danlos) who described forms of the condition in the early
1900's. A syndrome is simply a "collection of characteristics". There are six major types
of EDS; the Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, and
Dermatosparaxis Types. These types are not gradations in severity, but represent distinct
disorders that "run true" in a family. The different types are classified according to their
manifestations of signs and symptoms. The underlying features of all forms of EDS is a
genetic alteration at the molecular level which causes abnormalities, (weakened)
defective connective tissue within the collagen itself. Collagen is a protein that acts like
"glue", which holds the body together, and makes the connective tissue strong and
provides elasticity. Each type has a different collagen abnormality, but all share, in
varying degrees certain manifestations. This faulty collagen causes structural changes, to
the skin, ligaments, tendons, bone, fascia, and eyes. Some types of EDS also experience
weaknesses in the walls of the hollow organs of the gastrointestinal tract, in the
esophagus, the cardiovascular system, uterus, bladder, blood vessels, and the arteries.
Diagnosing a specific type may not be easy, however, because the manifestations often
overlap. The fundamental understanding of this complex disorder and it's varied
manifestations is essential to prevent major life threatening complications.
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