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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/.

Ehlers-Danlos syndrome

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.

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

 
 

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 collagen.

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 velvet–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).

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.

Clasical Ehlers-Danlos syndrome

Hypermobility Ehlers-Danlos syndrome

Vascula Ehlers-Danlos syndrome

Kyphoscoliosis Ehlers-Danlos syndrome

Arthrochalasia Ehlers-Danlos syndrome

Dermatosparaxis Ehlers-Danlos syndrome

Ehlers-Danlos picture

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 damage.

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.

 Ehler's Danlos Syndrome picture
 

 

 

   

   

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Arthritis can develop as a result of an infection. For example, bacteria that cause gonorrhea or Lyme disease can cause arthritis. Infectious arthritis can cause serious damage, but usually clears up completely with antibiotics. Scleroderma is a systemic disease that involves the skin, but may include problems with blood vessels, joints, and internal organs. Fibromyalgia syndrome is soft-tissue rheumatism that doesn't lead to joint deformity, but affects an estimated 5 million Americans, mostly women. The approximate number of cases in the United States of some common forms of arthritis.

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