Ehlers-Danlos SyndromeEhlers-Danlos SyndromeJenn HuffJenn Huff

PESS 462PESS 462

Dr. Ruth NearingDr. Ruth Nearing

What is Ehlers-Danlos What is Ehlers-Danlos Syndrome (EDS)?Syndrome (EDS)?

Heritable connective tissue disorders Heritable connective tissue disorders

Defect in connective tissue, the tissue Defect in connective tissue, the tissue that provides support to many body that provides support to many body parts such as skin, muscles, and parts such as skin, muscles, and ligaments ligaments

The fragile skin and unstable joints are The fragile skin and unstable joints are because of faulty collagenbecause of faulty collagen

Ehlers-Danlos SyndromeEhlers-Danlos Syndrome

Collagen is a protein, which acts as a Collagen is a protein, which acts as a “glue” in the body, adding strength “glue” in the body, adding strength and elasticity to connective tissue.and elasticity to connective tissue.

Joint hypermobility, skin extensibility, Joint hypermobility, skin extensibility, and tissue fragilityand tissue fragility

Causes & PrevalenceCauses & Prevalence Variety of genetic alterations that disrupt Variety of genetic alterations that disrupt

the normal production of collagenthe normal production of collagen Passed on from parent to childrenPassed on from parent to children Lack of appropriate collagen synthesis, Lack of appropriate collagen synthesis,

which leaves their connective tissue weak which leaves their connective tissue weak and unstable. and unstable.

1 in 5,000 people are diagnosed1 in 5,000 people are diagnosed Affects both genders and all racial and Affects both genders and all racial and

ethnic backgroundsethnic backgrounds

PrognosisPrognosis

Depends on the specific typeDepends on the specific type

Life expectancy can be shortened with Life expectancy can be shortened with the Vascular type because of possible the Vascular type because of possible organ and vessel ruptureorgan and vessel rupture

Life expectancy is not affected in the Life expectancy is not affected in the other typesother types

SymptomsSymptoms

Loose joints (frequent dislocations, joint Loose joints (frequent dislocations, joint pain, hyperextensible joints)pain, hyperextensible joints)

Abnormal scar formation Abnormal scar formation

Poor and slow wound healing Poor and slow wound healing

Soft, velvety, stretchy skin that bruises and Soft, velvety, stretchy skin that bruises and tears easilytears easily

Less Common SymptomsLess Common Symptoms

Problems with blood clottingProblems with blood clotting

Weak blood vesselsWeak blood vessels

Eye problemsEye problems

Symptoms can vary depending on the Symptoms can vary depending on the type of EDStype of EDS

Pictures of EDSPictures of EDS

Six Different Types of EDSSix Different Types of EDS

ClassicalClassical– Skin has a smooth, velvety texture and Skin has a smooth, velvety texture and

bruises easilybruises easily– Joints are hyperextensible, dislocations are Joints are hyperextensible, dislocations are

commoncommon– Decreased muscle tone in children which may Decreased muscle tone in children which may

delay motor developmentdelay motor development HypermobilityHypermobility

– Excessively loose joints, both large and small Excessively loose joints, both large and small joints are affectedjoints are affected

Types of EDSTypes of EDS

VascularVascular– Most severe formMost severe form– The connective tissue in the intestines, The connective tissue in the intestines,

arteries, uterus, and other hollow organs may arteries, uterus, and other hollow organs may be unusually weakbe unusually weak

– Small joints are looseSmall joints are loose– The skin is thin and translucentThe skin is thin and translucent

KyphoscoliosisKyphoscoliosis– Loose joints, low muscle tone at birth, scoliosis Loose joints, low muscle tone at birth, scoliosis

at birth, and a fragility of the eyesat birth, and a fragility of the eyes

Types of EDSTypes of EDS

ArthrochalasiaArthrochalasia– Severe generalized joint hypermobility and Severe generalized joint hypermobility and

bilateral hip dislocation present at birthbilateral hip dislocation present at birth DermatosparasisDermatosparasis

– Severe skin fragility and sagging or aged Severe skin fragility and sagging or aged appearing skin.appearing skin.

Each type runs true in a family. Someone with Each type runs true in a family. Someone with Vascular Type will not have a child with Classical Vascular Type will not have a child with Classical TypeType

Socio-Emotional ConcernsSocio-Emotional Concerns

Most people with EDS look normal Most people with EDS look normal The condition isn’t always taken The condition isn’t always taken

seriously by doctors, family, and seriously by doctors, family, and friendsfriends

Can be isolatingCan be isolating General lack of awareness and General lack of awareness and

understanding can lead to feelings of understanding can lead to feelings of frustration, stress, and depressionfrustration, stress, and depression

PreventionPrevention

Avoid injury Avoid injury Use protective gear (protective Use protective gear (protective

clothing, guards, or padding)clothing, guards, or padding) Reduce the clutter (Keep gym area Reduce the clutter (Keep gym area

clean)clean) Use assistive devices (help decrease Use assistive devices (help decrease

stress on your joints)stress on your joints) Wear sunscreenWear sunscreen

Strategies for CopingStrategies for Coping

Maintain normalcy Maintain normalcy

Review appropriate caregiving skills Review appropriate caregiving skills (what to do in there is an injury)(what to do in there is an injury)

Promote activityPromote activity

Find the best routine Find the best routine

ContraindicatorsContraindicators

Contact sportsContact sports

Vigorous, continuous exerciseVigorous, continuous exercise

Heavy liftingHeavy lifting

Best ActivitiesBest Activities

Swimming (best activity, less stress on Swimming (best activity, less stress on the joints)the joints)

GolfGolf Stationary BikeStationary Bike WalkingWalking Use softer equipment, such as a foam Use softer equipment, such as a foam

disc or yarn balldisc or yarn ball Individual Adapted ProgramIndividual Adapted Program

Video Clip

http://www.ednf.org/

ReferencesReferences

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.ht

ml http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/

Page736.htmlPage736.html http://www.ehlers-danlos.org/index.htmhttp://www.ehlers-danlos.org/index.htm http://www.answers.com/topic/ehlers-danlos-syndrome?http://www.answers.com/topic/ehlers-danlos-syndrome?

cat=healthcat=health http://www.nlm.nih.gov/medlineplus/ency/images/enhttp://www.nlm.nih.gov/medlineplus/ency/images/en

http://www.newhair.com/images/resources/mp-2002-http://www.newhair.com/images/resources/mp-2002-artofrepair2/image095.jpg cy/fullsize/2409.jpgartofrepair2/image095.jpg cy/fullsize/2409.jpg

http://www.emedicine.com/derm/images/22902290der0696-http://www.emedicine.com/derm/images/22902290der0696-02.jpg02.jpg