Ehlers Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.

The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form’s associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance.

Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

EDS syndromes are heritable disorders of the connective tissues, and.as such, the disorders are present at birth. However, symptoms may not be noticeable until later in life.

Mortality is not an important feature of EDS, with the exception of type IV EDS. Median life expectancy for patients with type IV EDS is 50 years because of the tendency for spontaneous rupture of medium-sized arteries, the GI tract, or both.

There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.

 


Signs, symptoms & indicators of Ehlers Danlos Syndrome

Symptoms - Aging  

Reduced skin elasticity



Symptoms - Immune System  

Poor wound healing



Symptoms - Skeletal  

Loose ligaments/joints



 

Double-jointedness



Symptoms - Skin - General  

(High) bruising susceptibility




Conditions that suggest Ehlers Danlos Syndrome

Circulation  


 


Symptoms - Head - Eyes/Ocular  

Having retinal detachments or having a retinal detachment




Ehlers Danlos Syndrome can lead to

Infections  



Recommendations for Ehlers Danlos Syndrome

Environmental  

Sun Exposure Reduction / Sunscreen

Premature aging due to sun exposure is a risk for many people with Ehlers-Danlos syndrome. When out-of-doors during peak daylight hours use a sunscreen with a protection factor of 15 or above and wear long sleeves, long pants and a wide brimmed hat.



Habits  

Aerobic Exercise

Joint stability may be improved through prescribed exercise programs that strengthen the muscles. But avoid weightlifting. It puts too much strain on your joints. Any exercises that cause you to put pressure on locked joints should be avoided. Check with your doctor or physical therapist to learn appropriate strengthening exercises and the proper way to do them.



Lab Tests/Rule-Outs  

Eye Doctor / Ophthamologist

People with EDS should have regular eye exams. Nearsightedness (myopia) is a common condition and can be corrected with prescription glasses or contact lenses. People with one particular form of EDS (EDS VI) are particularly at risk for serious eye conditions and should consult a doctor with experience treating EDS.



Surgery/Invasive  

Prolotherapy

The following was posted on Prolonews.com.

“Amanda has Ehlers-Danlos Syndrome (EDS). This is a syndrome that can affect every joint and ligament in the body. People with EDS like Amanda’s are typically in a wheelchair by the early 20’s! Amanda had been a person in a wheelchair in the past, but she certainly was not when I first saw her. She had been receiving yearly Prolotherapy from Dr. Gustav Hemwall, and then started to see me when Dr. Hemwall retired. She received Prolotherapy to just about all of the joints of her body over a two day period. It really helped her. She was able to work part-time and have a much more enjoyable life that others with her condition.”



Vitamins  

Vitamin D

If avoiding sun exposure, one should consider the use of supplemental vitamin D.



 

Vitamin C (Ascorbic Acid)

Vitamin C (ascorbic acid) may be effective in reducing the severity of symptoms for some people with EDS.



Key

Weak or unproven link
Strong or generally accepted link
May do some good
Likely to help

Glossary

Protein

Compounds composed of hydrogen, oxygen, and nitrogen present in the body and in foods that form complex combinations of amino acids. Protein is essential for life and is used for growth and repair. Foods that supply the body with protein include animal products, grains, legumes, and vegetables. Proteins from animal sources contain the essential amino acids. Proteins are changed to amino acids in the body.

Collagen

The primary protein within white fibers of connective tissue and the organic substance found in tendons, ligaments, cartilage, skin, teeth and bone.

Intravenous Infusion

(IV): A small needle placed in the vein to assist in fluid replacement or the giving of medication.

Gastrointestinal

Pertaining to the stomach, small and large intestines, colon, rectum, liver, pancreas, and gallbladder.

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