ednf center for clinical care & research at gbmc 2014 ... · 2014 physicians conference...
TRANSCRIPT
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EDNF Center for Clinical Care &
Research at GBMC
2014 PHYSICIANS
CONFERENCE
September 15, 2014
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Ehlers-Danlos Syndromes
in the Pediatric Population
Antonie D. Kline, M.D.
Director of Pediatric Genetics
EDNF Center for Clinical Care and
Research at GBMC
Harvey Institute for Human Genetics
Greater Baltimore Medical Center
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My Presentation
Overview of EDS
Case presentations
Clinical findings
Familial aspects
Management in the pediatric
population
Pediatric genetics practice
experience
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EDS, General Facts
Hereditary disorders of connective tissue
Most due to defects in collagen but not all
Most types autosomal dominant
Most types have skin involvement/fragility
and joint laxity
Can have involvement of cardiovascular
system
Can be progressive and unpredictable
Likely more common than 1:5000
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EDS, Major Types
Classical Type – Joint laxity, very
hyperextensible fragile skin, thin atrophic
scars with poor wound healing
Hypermobility Type – Most common, marked
joint laxity, soft doughy skin, normal scars
Vascular Type – Mild joint laxity, thin skin,
slow wound healing, normal scars
Other three major types rare
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EDS, Major Types
Classical Type – Joint laxity, very
hyperextensible fragile skin, thin atrophic
scars with poor wound healing, chronic pain
Hypermobility Type – Most common, marked
joint laxity, soft doughy skin, normal scars,
chronic pain
Vascular Type – Mild joint laxity, thin skin,
slow wound healing, normal scars
Other three major types rare
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EDS, Major Types
Classical Type – Joint laxity, very
hyperextensible fragile skin, thin atrophic
scars with poor wound healing, chronic pain,
aortic dilitation
Hypermobility Type – Most common, marked
joint laxity, soft doughy skin, normal scars,
chronic pain, aortic dilitation
Vascular Type – Mild joint laxity, thin skin,
slow wound healing, normal scars, risk for
aortic dilitation and arterial rupture
Other three major types rare
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Autosomal Dominant Inheritance
http://www.tupbebek-
genetik.com/en/genetics/molecular-genetics
E
D
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E
D
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D
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Case 1: 11 yo W M
• Medical History: Double jointedness, able to
do tricks, loose shoulder joints with recent
shoulder dislocation, does wrestling, rock
climbing
• Development: High IQ, dyslexia, executive
function issues, ADHD
• Family History: Mother with soft skin, tear in
anterior cruciate ligament, MGM with torn
rotater cuff; father was gymnast, few details
known
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Beighton Score
• Assign on PE by examining major joints
• Hypermobility is Beighton score greater than 4/9
• Joint hypermobility? 1 point per item
Passive dorsiflexion 5th finger beyond 90 degrees? Right ________ Left ________ Points ___
Passive apposition of thumbs to flexor forearm? Right ________ Left ________ Points ___
Hyperextension of elbows beyond 10 degrees? Right ________ Left ________ Points ___
Hyperextension of knees beyond 10 degrees? Right ________ Left ________ Points ___
Forward flexion of trunk with knees extended so palms rest flat on floor? Point ____
Total points _____
http://hypermobility.org
/help-advice/ hyper
mobility-syndromes/
beighton-score
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Case 1, cont.
• Physical Findings:
Normal growth, Beighton
8/9, mild scoliosis mid-
thoracic region, scapular
winging, skin
hyperextensibility, single
atrophic scar
• Diagnostic Study:
COL3A1 mutation testing
negative
• Likely classical EDS
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Case 1, Follow-up
Seen at 12 and 14 years
Developed significant pain in multiple
joints and reflex sympathetic dystrophy
after injury to one joint
Developed abdominal pain, possible cyclic
vomiting, severe nausea/vomiting
Developed chronic headaches, possible
migraine with stress component – has
undergone acupuncture with some relief
Undergoing work-up for POTS
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Case 1, Management
Echocardiogram: Normal, will repeat in 5
years to assess aortic root size
Activities: Curtail wrestling, rock climbing;
highly recommend swimming and other
lower impact sports/exercises
Joints: Recommend physical therapy,
including warm water; myofascial trigger
point massage; support for painful joints
but not total immobilization
School: Letter written for them to make
accommodations
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Cardiac and Aortic Involvement in
EDS Risk for dilation of aortic root
Risk for valvular involvement, especially MVP
Recent study Atzinger C, et al. J Pediatr 158:826-30,2011.Epub 2010 Dec 28
showed increased size of aortic root in 3% but
with rare dilation at 15 years of age or more
Also showed that incidence of MVP was 6%
although sometimes not benign
Recommend echocardiogram in all children
with EDS; repeat in 5 years if normal through
age 15 years and refer if abnormal
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EDS and Pain Management in
Pediatric Population Not well studied and needs to be
Overall recommendations
Physical therapy, especially warm water
Regular strengthening of muscles, minimize
contact sports and encourage swimming
Use Epsom salts in bath or foot soaks
Myofascial trigger point release
Referral to PM&R physicians or Pain Clinic
Medications: Analgesics, no narcotics, consider
topical approach (eg Lidocaine, Indomethicin,
Diclofenac); no compound creams below 15 years
Use accommodations in school, handicapped
parking for malls, be sensible
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Case 2: 7 mo W F
Medical History: Uncomplicated
prenatal/ neonatal history, at 6 months
noted to have very mobile joints, knee
dislocations, episodes of screaming
Family History: Maternal family history of
multiple joint dislocations, flexible joints, soft
stretchy skin
Physical Findings: Normal growth, light blue
sclerae, very flexible joints with clicks upon
movement, no Beighton, smooth soft skin
Likely hypermobile EDS
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Case 2, Follow-up Seen at 14 months for follow-up, stable
Echocardogram normal
Not seen again until 10 years
Developed arthralgias, leg weakness and
severe back pain, hip pain, miserable with
pain
Diagnosed with hip synovitis, bilateral
trochanteric bursitis
Given steroid injections, Lidoderm patch,
weekly Methotrexate, also given Elavil, Zoloft,
Rocicet (Oxycodone/Tylenol) and Tylenol
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Case 2, follow-up cont.
Using wheelchair for 2 months prior to our
visit
Developed confusional migraines
Developed abdominal pains, constipation,
taking Prilosec and Prevacid
Developed nocturnal enuresis
Normal development, doing well in school
but absent frequently
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Case 2, 10 yo
Physical Findings:
normal growth,
Beighton score 4/9,
joints with clicks, mild
scoliosis mid-thoracic
region, flat feet,
smooth soft skin with
atrophic scar on side
of abdomen
12 yo in follow-
up, doing better
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Case 2, cont.
Upright MRI brain, spine and CT scan upper
cervical spine showed no Chiari malformation
but 50% foraminal narrowing at C3-4 and
straightening of mid-lower cervical lordosis
Now taking Tylenol, Tramidol, Cymbalta,
Neurontin and Diazepam for pain, and getting
trigger point injections; pain has improved and
she is no longer using wheelchair regularly
Developed episodic dizziness with positional
change and headaches; diagnosed with POTS
and increased fluid intake, taking salt tablets
Doing well in school but missed a lot
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Postural Orthostatic Tachycardia
Syndrome in EDS
Orthostatic symptoms: dizziness,
lightheadedness, weakness, change in
vision, palpitations
Older adolescents: increase in HR by 30-40
bpm within 10 min of standing up or tilting up
without change in bp
Children less than 13 years: HR above 130,
or increase in HR by 40 bpm similarly upon
rising Benarroch EE, Mayo Clin Proc 87:1214-25,2012.Epub 2012 Nov 1
Treatment: hydration, electrolytes, rising up
slowly, compression stockings, exercises
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Case 2, Management
Echocardiogram: Normal, repeat in 5
years
Joints: Continue pain clinic and current
pain management; use Epsom salts in
bath or foot soaks; encourage swimming,
resume PT if indicated
C-spine: Referral to pediatric
neurosurgery
POTS: Increase fluids and salt intake
School: Continue to use accommodations
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Case 3: 9 yo W M
Medical History:
Always had loose joints, easy bruising, fragile
blood vessels, headaches
At 9 years diagnosed with Chiari
malformation s/p neurosurgical repair, still
with headaches, fatigue
Also with GERD; ADHD, anxiety, delayed
development, autism spectrum disorder
Family History: Sisters with hypermobile EDS,
one with Chiari malformation and possible
tethered cord, mother with EDS
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Case 3, cont.
Physical Findings: normal
growth, Beighton 5/9, feet
flat with inwardly rotated
ankles, soft skin
Diagnostic Studies: SNP
microarray normal
Recommendations:
Follow symptoms, consider
repeat brain/neck studies
Echocardiogram: normal,
repeat in 5 years
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Chiari and EDS
Craniocervical junction abnormality can occur
along with A. Chiari type I malformation, both of
which is known to accompany EDS Milhorat TH, et al., J
Neurosurg Spine 7:601-9,2007
Full evaluation for this: upright brain MRI,
upright cervical spine MRI in flexion and
extension, and CT scan of the upper spine in
neutral, rotation to the right, rotation to the left
(specific centers specialize in upright MRI)
If present, cervical traction and/or surgical
decompression can provide neurologic
improvement Menezes AH, J Neurosurg 116:301-9,2012.Epub 2011 Nov 18
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EDS and Pediatric Genetics Practice
A review of 101 patients seen
Female to male ratio is 58% to 42% or 1.38:1
Age range 7 months – 20 years
Race: White %, Black 10%, Asian 4%
Referrals
Made by
77% pediatrics
20% orthopedics, 3%psychiatry
Reasons for referral
64% hypermobility, rule out EDS
20% rule out Marfan syndrome
5% r/o OI, 5% hypotonia, 5% MCA
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Joint Hypermobility
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EDS and Pediatric Genetics
Practice, cont. Diagnosis:
25% Classical EDS
66% Hypermobile EDS
0% Vascular EDS
1% Arthrochalasia EDS
1% possible OI/EDS phenotype
7% unclear type of EDS
Familial Cases: 76% (74% maternal, 11%
paternal, 13% unknown), with 8% “likely
familial”
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Can Do Tricks with Joints
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EDS and Pediatric Genetics
Practice, cont. Skin complications
Soft skin 79%
Abnormal scarring 33%
Bruising 28%
Joint complications
Fractures 18%
Dislocations 33%
Pain 46%
Beighton score >5 in 41%
Needing to use wheelchair 3%
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Skin Involvement
in EDS
edstoday.org
www.skinversal.com
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Stretchy Ears,
Cheeks, Skin
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EDS and Therapy Issues
Swimming and bicycling recommended
Feet
Physical therapy and support (eg AFO’s)
Minimize walking, park in handicapped
spots
Hands
Splints for acute issues
Pen/pencil accomondations from OT
Ring splints for extra support
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Foot Involvement
in EDS
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EDS and Pediatric Genetics
Practice, cont.
Functional GI involvement 21%
Migraines 15%
Cardiac
Dilated aortic root 3%
Mitral valve prolapse 3%
POTS 6%
Behavior
ADHD 15%
Anxiety 8%
Depression 3.5%
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EDS and Neurodevelopment
No major studies to evaluate this; several case
reports
Neurologic
Hypotonia 6%
Fatigue 8%
Chiari/craniocervical junction abnormality 2%
Development
Delayed, ID 8%
Learning disability 10%
Autism 4%
Ongoing evaluation to assess mitochondrial
function; fatigue may be related to this
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Acknowledgements
Clair Francomano, M.D.
Marcia Ferguson, M.S., C.G.C.
Amy Kimball, M.S., C.G.C.
Christy Haakonsen, Sc.M., C.G.C.
Pat Williams
Linda Wiley
Greater Baltimore Medical Center
Ehlers-Danlos National Foundation