Transcript Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome
Jenn Huff
PESS 462
Dr. Ruth Nearing
What is Ehlers-Danlos
Syndrome (EDS)?
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Heritable connective tissue disorders

Defect in connective tissue, the tissue that
provides support to many body parts such
as skin, muscles, and ligaments

The fragile skin and unstable joints are
because of faulty collagen
Ehlers-Danlos Syndrome

Collagen is a protein, which acts as a “glue”
in the body, adding strength and elasticity
to connective tissue.
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Joint hypermobility, skin extensibility, and
tissue fragility
Causes & Prevalence
Variety of genetic alterations that disrupt
the normal production of collagen
 Passed on from parent to children
 Lack of appropriate collagen synthesis,
which leaves their connective tissue weak
and unstable.
 1 in 5,000 people are diagnosed
 Affects both genders and all racial and
ethnic backgrounds

Prognosis

Depends on the specific type

Life expectancy can be shortened with the
Vascular type because of possible organ
and vessel rupture

Life expectancy is not affected in the other
types
Symptoms

Loose joints (frequent dislocations, joint
pain, hyperextensible joints)
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Abnormal scar formation
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Poor and slow wound healing

Soft, velvety, stretchy skin that bruises and
tears easily
Less Common Symptoms

Problems with blood clotting
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Weak blood vessels
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Eye problems
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Symptoms can vary depending on the type
of EDS
Pictures of EDS
Six Different Types of EDS

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

Hypermobility
– Excessively loose joints, both large and small
joints are affected
Types of EDS

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

Kyphoscoliosis
– Loose joints, low muscle tone at birth, scoliosis
at birth, and a fragility of the eyes
Types of EDS

Arthrochalasia
– Severe generalized joint hypermobility and
bilateral hip dislocation present at birth

Dermatosparasis
– Severe skin fragility and sagging or aged
appearing skin.

Each type runs true in a family. Someone with Vascular
Type will not have a child with Classical Type
Socio-Emotional Concerns
Most people with EDS look normal
 The condition isn’t always taken seriously by
doctors, family, and friends
 Can be isolating
 General lack of awareness and
understanding can lead to feelings of
frustration, stress, and depression

Prevention
Avoid injury
 Use protective gear (protective clothing,
guards, or padding)
 Reduce the clutter (Keep gym area clean)
 Use assistive devices (help decrease stress
on your joints)
 Wear sunscreen

Strategies for Coping

Maintain normalcy

Review appropriate caregiving skills (what
to do in there is an injury)

Promote activity

Find the best routine
Contraindicators

Contact sports

Vigorous, continuous exercise

Heavy lifting
Best Activities
Swimming (best activity, less stress on the
joints)
 Golf
 Stationary Bike
 Walking
 Use softer equipment, such as a foam disc
or yarn ball
 Individual Adapted Program

Video Clip

http://www.ednf.org/
References
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http://www.ednf.org/
http://www.orthop.washington.edu/uw/tabID__3376/ItemID__32/mid_
_10313/PageID__7/Articles/Default.aspx
http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html
http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/Page736.
html
http://www.ehlers-danlos.org/index.htm
http://www.answers.com/topic/ehlers-danlos-syndrome?cat=health
http://www.nlm.nih.gov/medlineplus/ency/images/en
http://www.newhair.com/images/resources/mp-2002artofrepair2/image095.jpg cy/fullsize/2409.jpg
http://www.emedicine.com/derm/images/22902290der0696-02.jpg