Individuals with Ehlers-Danlos syndromes (EDS) have a genetic defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
EDS is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is defined as a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
What are the symptoms of EDS?
Clinical manifestations of EDS are most often joint and skin related and may include:
Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns that tissue to normal. Collagen is found throughout the body, and EDS are a structural problem. An analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.
It is much the same thing with EDS and collagen. The collagen with which a person with EDS is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged. Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread, in a wide range of severities, and show up in places that seem unrelated until the underlying connection to EDS is recognized.