About Ehlers-Danlos

---

Taken from EDNF.org's website:

What is Ehlers-Danlos Syndrome?

Individuals with EDS have a 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 EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
Ehlers-Danlos syndrome (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 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:
Joints: 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.
Skin: 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).
Miscellaneous/Less Common: 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.
.

What are the types of EDS?

There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. An individual with Vascular Type EDS will not have a child with Classical Type EDS. Learn more about the different types of EDS.

How is EDS diagnosed?

The categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of the Ehlers-Danlos syndrome or between the Ehlers-Danlos syndrome and other phenotypically related conditions. In 1997, a revised nosology was written in Villefranche that redefined the types of EDS. Learn more about the EDS nosology and how EDS is diagnosed.

How prevalent is EDS?

At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.

How is EDS inherited?

The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. Read more about hereditary patterns.

What is the prognosis of someone with EDS?

The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.