|For more information you can contact Ehlers-Danlos National Foundation.
6399 Wilshire Blvd., Suite 510, Los Angeles, CA 90048. (213) 651-3038. http://www.ednf.org/.
Individuals with EDS have a defect in their
connective tissue, the tissue which 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.EhlersDanlos 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
Description of Ehlers-Danlos syndrome
Collagen is a strong, fibrous protein that lends strength and elasticity to connective
tissues such as the skin, tendons, organ walls, cartilage, and blood vessels. Each of
these connective tissues requires collagen tailored to meet its specific purposes. The
many roles of collagen are reflected in the number of genes dedicated to its production.
There are at least 28 genes in humans that encode 16 different types of collagen. Defects
in these genes can affect basic construction as well as the fine-tuned processing of the
According to the Ehlers-Danlos National Foundation, 1 in 5,000 to 1 in 10,000 people
are affected by some form of EDS. EDS is an inherited disease, and its pattern depends on
the affected gene. There are three types of inherited patterns: autosomal dominant,
autosomal recessive, and X-linked (extremely rare).
Because chromosomes are inherited in pairs, each individual receives two copies of the
same gene. (The sex chromosomes are an exception, because males inherit one copy each of
the X and the Y chromosome; females inherit two copies of the X chromosome.) In many
cases, only one of the two genes is expressed. The gene that is expressed is referred to
as the dominant gene; the gene that is not expressed is referred to as the recessive gene.
If the defective gene in EDS is autosomal dominant, an individual who inherits it will
develop the symptoms of EDS. If the defective gene is autosomal recessive, the individual
will not develop symptoms of EDS, as long as the other gene is normal.
Symptoms of Ehlers-Danlos syndrome
Clinical manifestations of EDS are most often skin and joint
related and may include:
Skin: soft velvetlike 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).
Joints: joint hypermobility; loose/unstable joints which are prone to frequent
dislocations and/or subluxations; joint pain; hyper extensible joints (they move beyond the
joint's normal range); early onset of osteoarthritis.
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.
Types of Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a heterogeneous
group of heritable connective tissue disorders characterized by articular hypermobility,
skin extensibility and tissue fragility. Individuals with EDS have a defect in their
connective tissue. It is this tissue that provides support to many body parts such as the
skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are
due to faulty collagen. Collagen is a protein that acts like glue in the body adding
strength and elasticity to connective tissue.
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. This means that an
individual with Vascular Type EDS will not have a child with Classical Type EDS.
Diagnosis of Ehlers-Danlos syndrome
Symptoms such as extreme joint looseness and unusual skin qualities, as well as family
history, can lead to a diagnosis of EDS. Specific tests such as skin biopsies are
available for certain types of EDS, including vascular, arthrochalasia, and
dermatosparaxis types. A skin biopsy involves removing a small sample of skin and
examining its microscopic structure. Urine testing is done for the Kyphoscoliosis type.
Treatment of Ehlers-Danlos syndrome
Medical therapy rests on managing the symptoms and trying to prevent complications; EDS
cannot be cured. Braces may be prescribed to stabilize joints, although surgery is
sometimes necessary to repair joint damage caused by repeated dislocations. Physical
therapy teaches individuals how to strengthen muscles around joints and prevent or limit
Alternative treatment of Ehlers-Danlos syndrome
There are anecdotal reports that large daily doses (1-4 grams) of vitamin C help
decrease bruising and aid in wound healing. An individual with EDS should double check
this type of therapy with a physician. Therapy that doesn't require medical consultation
involves protecting the skin with sun screen and avoiding activities that place stress on
the joints. Constitutional homeopathic treatment may be helpful in maintaining optimal
health in persons with a diagnosis of EDS.
Prognosis of Ehlers-Danlos syndrome
The outlook for individuals with EDS depends on the type of disorder. Symptoms vary in
severity, which alters the frequency of complications on an individual basis. Most
individuals will have a normal lifespan, but people with blood vessel involvement,
especially EDS vascular type, have an increased risk of fatal complications. Extreme joint
instability and scoliosis may limit a person's mobility.
Prevention of Ehlers-Danlos syndrome
Since EDS is a genetic disorder; it cannot be prevented. However, some of the
complications of the disorder can be avoided to a certain degree. Prior to having
children, individuals with EDS should consult their physicians and a genetic counselor to
investigate the risks to themselves and to their potential children.