Classical Ehlers-Danlos

Syndrome

MARK E. LAVALLEE, M.D, C.S.C.S, F.A.C.S.M.

DIRECTOR, YORK HOSPITAL SPORTS MEDICINE FELLOWSHIP

PAST CHAIR, EDNF, PROFESSIONAL ADVISORY COUNCIL

ASS’T CLIN.PROFESSOR, PENN STATE UNIV., COLLEGE OF MEDICINE

ADJUNCT CLIN. PROFESSOR, DREXEL UNIVERSITY, SCHOOL OF MEDICINE

CHAIRMAN, USA WEIGHTLIFTING, SPORTS MEDICINE SOCIETY

TEAM PHYSICIAN, GETTYSBURG COLLEGE

YORK, PENNSYLVANIA

EDNF National Conference

August 15th, 2015

Disclosures

No conflicts of interests

No Financial disclosers to reveal

All patients have given permission for their images/stories to be used

in this talk.

OBJECTIVES

Molecular Genetics (as best we know it as of 2015)

History of Ehlers-Danlos

Define signs / symptoms of Classical Type

Stages of Classical EDS

Youth concerns

Adolescent concerns

Adult concerns

Mature adult concerns

Pearls of the “care and well-being” of the Classical EDS Patient

What is Collagen?

Most abundant structural

protein in our bodies!

Triple Helix (i.e. rope)

Found in bone, cartilage,

tendons, ligaments etc.

>>18 different types now

identified

In EDS, processing

problem at cellular level

Testing for Classical Type of EDS

HISTORY & EXAM- still GOLD standard GENETIC: Appears to be mostly on COL5A1 and COL5A2 genes. Can be tested via blood or live skin biopsy. STRUCTURAL: electron microscopy, mostly done in Germany, no standards set as of 2015.

Loeys-Deitz Syndrome (2005)

A variant of Marfan? EDS?

TGFBR1 & TGFBR2

Long arms/fingers

Aortic aneuryms

Aoritc dissection/tortuosity

Bifid Uvula/Cleft Palate

Wide-set eyes(hypertelorism)

Pectus deformity

Translucent skin

Hypermobility

Chiari Malformation

History of EDS

1682:Van Meekeran

Dutch Surgeon

1888: Kopp*

Case of a father & his son

1892: Chernogubov**

Russian Dermatologist with first

modern case description

George Albert, Spaniard w/ EDS

1682 lithograph

*Kopp, W. Demonstration zweier Faelle von 'cutis laxa'. Muench. Med. Wschr. 35: 259 only, 1888

** Royal Academy of Sciences in Russia

History of EDS 1901: Evard Ehlers (1863-1937)

Danish Dermatologist (Copenhagen)

described a variant of Cutis Laxa.

1908: Henri Danlos (1844-1911)

French Dermatologist who described a

young boy w/ skin laxity & chronic contusions

at a Paris convention

First known picture of

EDS Patient- 1908 Paris

Dr. Henri-Alexandre Danlos

What does IWF World Weightlifting Championships and

EDS have in Common?

Amager Hospital (former

Fredickerson Hospital) where

Evard Ehlers first saw patient

with EDS in 1901!

IWF World Masters Weightlifting

Championships Medical Team

9/2014

2 blocks apart

Recent History of EDS

1949: Ehlers-Danlos

given formal name

1955: Defect is in

collagen: Jansen

1968: Heterogenic

transmission:Beighton

1985: Ehlers-Danlos

National Foundation

1998:New Nosology

(classifications)

Father of Modern Medical Genetics

In 1966, McKusick published the first edition of Mendelian Inheritance in Man, a compendium of inherited disorders that had 1,500 entries in that printing. The book went through 12 editions, the last published in 1998, before going online. It has 20,000 entries and is continually updated

Dr. Victor A. McKusick, a Johns Hopkins professor widely considered the father of medical genetics, was awarded the prestigious Japan Prize in Medical Genetics and Genomics in 2008, before his death at 97yo in 2011.

People with EDS

Nicolas Pagninni, virtuoso violinist, 1700s,

“the devil incarnate”

Famous Rubber Men of India, 1800s

traveling circuses

Actually from Romania

Pia Zadora

1980s actress

What is the Incidence of EDS?

In 1970, Beighton - 1 in 20,000 live birth*

In 1985, Byers - 1 in 5,000 live births**

In 1990, Aulicino -1 in 2,500 live births

*Beighton, P. et al; 1970

**Byers, PH, Holbrook KA., Ann NY Acad Sci: 1985;460:pp. 298

Reason for Changing Incidence

Under diagnosis of milder cases

Healthcare providers more familiar w/ EDS.

Symptoms often mimic other conditions.

Ease of accessing medical information

What is Ehlers-Danlos Syndrome?

“Group of heritable disorders affecting

the collagen, often characterized by:

Hyper-extensible skin

Hyper-mobile joints

Easy bruising

Fragility of the skin

Classic signs of Classical Type

Thin, hyper-elastic skin

Angle of Jaw

Elbow, mid-forearm, mid-thigh

“Pinchable” skin in palm

Violaceous, “Cigarette Paper” Scar

tissue over

Forehead / Chin

Extensor surfaces (elbows, knees, shins)

Small joint laxity

Fingers, Hands, toes

Increase sub-talar motion/ ankle laxity

Evard Ehler’s Patient, circa

1903

Laboratory Diagnosis

As of 2015, still a clinical or PHENOTYPIC

diagnosis

If involved in research OR if there is a

question of which type of EDS or if

another condition is present

(Dermatospraxis, Cutis Laxal, etc)

Blood or Skin Biopsy for GENETIC

TESTING (molecular genetics)

COL 5A1 and COL5A2 genes

Skin Biopsy for ELECTRON MICROSCOPY

(used mostly in Heifelberg, Germany)

Mao et al. J Clin Invest. 2001;107(9):1063-1069. doi:10.1172/JCI12881.

Youth Concerns

Protection from trauma

Normalize childhood experience

Avoid parental “hovering”

Appropriate laceration repair

Family doctor/ Pediatrician

Plastic Surgeon

“trained” parents

Promote non-contact sports, when

possible.

Protect if child wants to play

Wound Closure Techniques in Classical

type Sutures or Stitches

Simple interrupt

Horizontal mattress (to secure large

wounds)

Dermabond (a.k.a. Super glue)

Face

Scalp: long hair? Tie and bead of glue

Avoid in cuts over joints

Steri-Strips

Surgical staple gun

Butterfly band-aids

Typical “Fish

mouth” laceration

over knee

Adolescent / Young Adult Concerns:

GIRLS “fitting in” with social groups

Avoid “stupid human or circus tricks”

GIRLS:

Yoga pants: GOOD

When MENSES start: needs to improve CV exercise (Counters POTS)

Start strength training between 10-13 y.o.

SCAR

Mederma topical

Vitamin E cream

Avoid tanning beds, long exposure to UV radiation

Hats, long arm/leg pants

Adolescent / Young Adult Concerns:

BOYS “fitting in” with social groups

Avoid “stupid human or circus tricks”

BOYS:

Start strength training between 10-13 y.o. (especially if swimmer, gymnastics, wrestler, etc)

Avoid contact sports

Protect SHINS/KNEES/ELBOWS

SCAR

Mederma topical

Vitamin E cream

Avoid tanning beds, long exposure to UV radiation

Hats, long arm/leg pants

Mature Adult Concerns

Progeria-prevention

Sun/UV protection

Avoid obesity

Stay VERY active

10,000 steps a day

Swim/bike/walk

Avoid excessive running

Arthritis

Small Joints

Large Joints

PAIN CONTROL

Discuss with your PCP

Develop a plan that uses a TIERED SYSTEM

NO PAIN – NO PILLS

Minimal pain (1st Tier): Tylenol,

Moderate pain (2nd Tier): NSAIDs, topicals, patches.

Severe Pain (3rd Tier): Tramadol, avoid daily narcotics (only during flare up 2x/week)

Accupuncture

Biofeedback

Massage

Chiropractic no more than 2x/month

OVERVIEW

Protect the skin

When laceration occurs, be prepared and have a plan

Stay active

Allow kids to be kids

protect their skin and joints

Redirect, rather than say “No”

Avoid Obesity

Tiered Pain control