Ehlers-Danlos Syndrome Jenn Huff PESS 462 Dr. Ruth Nearing

What is Ehlers-Danlos Syndrome (EDS)? n Heritable connective tissue disorders n Defect in connective tissue, the tissue that provides support to many body parts such as skin, muscles, and ligaments n The fragile skin and unstable joints are because of faulty collagen

Ehlers-Danlos Syndrome n Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue. n Joint hypermobility, skin extensibility, and tissue fragility

Causes & Prevalence n Variety of genetic alterations that disrupt the normal production of collagen n Passed on from parent to children n Lack of appropriate collagen synthesis, which leaves their connective tissue weak and unstable. n 1 in 5,000 people are diagnosed n Affects both genders and all racial and ethnic backgrounds

Prognosis n Depends on the specific type n Life expectancy can be shortened with the Vascular type because of possible organ and vessel rupture n Life expectancy is not affected in the other types

Symptoms n Loose joints (frequent dislocations, joint pain, hyperextensible joints) n Abnormal scar formation n Poor and slow wound healing n Soft, velvety, stretchy skin that bruises and tears easily

Less Common Symptoms n Problems with blood clotting n Weak blood vessels n Eye problems n Symptoms can vary depending on the type of EDS

Pictures of EDS

Six Different Types of EDS n Classical –Skin has a smooth, velvety texture and bruises easily –Joints are hyperextensible, dislocations are common –Decreased muscle tone in children which may delay motor development n Hypermobility –Excessively loose joints, both large and small joints are affected

Types of EDS n Vascular –Most severe form –The connective tissue in the intestines, arteries, uterus, and other hollow organs may be unusually weak –Small joints are loose –The skin is thin and translucent n Kyphoscoliosis –Loose joints, low muscle tone at birth, scoliosis at birth, and a fragility of the eyes

Types of EDS n Arthrochalasia –Severe generalized joint hypermobility and bilateral hip dislocation present at birth n Dermatosparasis –Severe skin fragility and sagging or aged appearing skin. n Each type runs true in a family. Someone with Vascular Type will not have a child with Classical Type

Socio-Emotional Concerns n Most people with EDS look normal n The condition isn’t always taken seriously by doctors, family, and friends n Can be isolating n General lack of awareness and understanding can lead to feelings of frustration, stress, and depression

Prevention n Avoid injury n Use protective gear (protective clothing, guards, or padding) n Reduce the clutter (Keep gym area clean) n Use assistive devices (help decrease stress on your joints) n Wear sunscreen

Strategies for Coping n Maintain normalcy n Review appropriate caregiving skills (what to do in there is an injury) n Promote activity n Find the best routine

Contraindicators n Contact sports n Vigorous, continuous exercise n Heavy lifting

Best Activities n Swimming (best activity, less stress on the joints) n Golf n Stationary Bike n Walking n Use softer equipment, such as a foam disc or yarn ball n Individual Adapted Program

Video Clip n

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