Coordination of care in adults

with EDS-HT

Shweta Dhar, MD,MS,FACMG

Director, Adult Genetics

Baylor College of Medicine

Chief, Genetics Section

Michael E. Debakey VAMC

So you know you have EDS….

Where do you go from here?

– For diagnosis

– For testing

– For management

– For support

Why do you need a diagnosis?

• Determining the type of EDS

• Confirmation of diagnosis is helpful for future

management

• Periodic screening per guidelines can be

done (for bone density, aortic dilation)

• Helps extended family members and at-risk

children

• May be helpful if you are filing for disability

and other legal issues (EDS-HT has an

unexpectedly high disability potential)

Voermans et al; Dis & Rehab Vol 33, 2011

Who makes the diagnosis?

Clinic setting Diagnosis established (%) Primary caregiver (%)

Primary Care 5.8 41.5

Genetics 28.6 6.2

Rheumatology 1.5 18.9

Orthopedics 7.3 6.9

Physical Medicine 1.5 4.9

Pediatrics 1.3 0.9

Pain clinic 0.4 6.0

Other 3.9 9.0

Murray et al; AJMG Sept 2013:161A

Who is a geneticist?

Geneticists are health professionals who use

genetic information to maintain and improve

the health of individuals, their families and

communities either directly or indirectly.

Who is a genetic counselor?

Genetic counselors work with

geneticists and can give you

personalized care based on

your genetic concerns

Where would you find a genetics

professional?

acmg.net

NSGC.org

What to expect in your visit with the

geneticist?

• Interview

• Medical history

• Family history

• Physical exam

• Diagnosis

• Testing

• Management

Diagnosis

EDS-HT is the most

difficult to diagnose

due to the lack of

clinical diagnostic

criteria and

confirmatory

laboratory/molecular

tests

Types of EDS (Villefranche, 1997)

TYPE INHERITANCE PREVIOUS

NOMENCLATURE

MAJOR CRITERIA MINOR CRITERIA

Classic AD Types I and II Skin

Wide scars

Joint

Smooth skin

Easy bruising

Molluscoid

pseudotumors

Joint

Post op hernia

Hypermobility AD Type III Joint

Skin

Recurrent joint

dislocation

Chronic pain

Vascular AD Type IV Thin skin

Rupture

Extensive

bruising

Facial features

Acrogeria

Small joints

Clubfoot

Varicose veins

Pneumothorax

Types of EDS (Villefranche, 1997)

TYPE INHERITANCE PREVIOUS

NOMENCLATURE

MAJOR CRITERIA MINOR CRITERIA

Kyphoscoliosis AR Type VI Joint laxity

Hypotonia @birth

Progressive

scoliosis

Scleral fragility

Tissue fragility

Easy bruising

Arterial rupture

Marfanoid

Microcornea

Osteopenia

Arthrochalasia AD Types VII A,B Congenital

bilateral

dislocated hips

Hypermobility

Subluxations

Skin

Atrophic scars

Hypotonia

Easy bruising

Kyphoscoliosis

Dermatosparaxis AR Type VII C Severe skin

fragility

Saggy, redundant

skin

Soft skin

Easy bruising

PROM

Hernias

Genetics of EDS

• Only one type of EDS runs in the family

• Classic: 50% inherited; 50% de novo

46% COL5A1; 4% COL5A2

• Vascular: 50% inherited; 50% de novo

>95% mutations in COL3A1

• Hypermobility: most have an affected

parent; de novo rate is unknown

• Autosomal dominant; incomplete

penetrance; variable expressivity;

influenced by gender of patient

Management of hypermobility EDS

(EDS-HT)

YOU

Role of geneticist

Role of sub-

specialists

Role of PCP

Role of PT

Guidelines for managing EDS-HT are still lacking

Clinical features of EDS-HT

Symptoms Distribution

Joint problems

(joint pain, hypermobility, limb pain, joint

subluxations)

99%

Cardiovascular system

(palpitations, tachycardia)

96%

Gastrointestinal system

(constipation, nausea, diarrhea, GERD, irritable

bowel syndrome)

96%

Skin

(hyperextensibility, easy bruising, smooth skin)

95%

Neurological/Psychological

(dizziness, fatigue, insomnia, anxiety, migraines)

88%

Genitourinary system

(endometriosis, prolapse)

67%

Murray et al; AJMG Nov 2013:161A

Castori ISRN Dermatology 2012

1. Musculoskeletal pain

• Major determinant of

quality of life

• Chronicity of pain and

resistance to treatment

determine prognosis

• Low to moderate

intermittent pain: clinical

geneticist, rheumatologist,

physiatrist or PCP

• Severe pain or chronic

pain: pain management

specialist

(anesthesiologists or

PM&R)

• Best is a multidisciplinary

approach

Musculoskeletal pain

• Pharmacologic treatment

– Ibuprofen, naproxen, paracetamol-codeine

+/- tramadol, amitryptiline, opiods

– Lidocaine cream/patch, local steroid injections, nerve

blocks, voltaren gel

• Non pharmacologic treatment

– Refer to OT/PT (for better joint health)

– Cognitive-behavioral therapy

– Soft neck collars, waterbeds

– Walkers, wheelchairs

– Use of braces (Bauerfeind, silver ring splint)

– Prolotherapy with 10% dextrose

– Refer to Chiropractor

– Heat and hydrotherapy, acupuncture, TENS units

2. Cardiovascular issues

• Mild valvular problems such as mitral valve

prolapse, tricuspid or aortic regurgitation

(25%)

• Aortic root dilation(10%)

– Echocardiograms every 3-5 years

– Refer to cardiologist

• Dysautonomia

Dysautonomia

• Resting sympathetic overactivity but decreased

sympathetic reactivity to stimuli

• Orthostatic intolerance (75%)

• Symptoms: dizziness, lightheadedness, vision

disturbance, nausea, sweating, chest tightness

• Provoked by standing upright, physical exercise,

heavy meals, warm environment, hot showers and

bath

• Related to fatigue

• Tests:

– Tilt table

– Holter monitor

– Electrocardiogram

Dysautonomia

• Management

– Compression stockings

– Sleep hygiene

– Diet: small meals; high salt (soy sauce, salted almonds,

jerky, soup, deli pickles)

– Physical counter maneuvers

– Temperature (cooling vests)

– Avoid trigger foods such as alcohol, caffeine, carbohydrates

– Medications such as fludrocortisone, midodrine, propranolol

• Where do you go for evaluation?

– Cardiologist/Electrophysiologist

– Neurologist

Dewandele et al; Semin Arthritis Rheum 2013 Dec

Dewandele et al: Semin Arthritis Rheum 2014 May

3. Gastrointestinal issues

• Extremely common but non-specific

• Not serious but with major consequence on

quality of life

• Upper GI symptoms

– 80% have heartburn and/or reflux

– 50% have chronic gastritis

– 68% have delayed gastric emptying or pain

– 55% had an upper endoscopy (half were normal)

• Lower GI symptoms

– 48% have irritable bowel syndrome

– 36% have functional constipation

Zeitoun et al: PLoS One 2013 Nov 22; 8(11)

4. Gynecological problems

• Irregular menses

• Heavy menses

• Pelvic pain and congestion

• Fertility & pregnancy are unaffected

• Small risk of preterm delivery and precipitous

delivery

• Pelvic prolapse (urinary stress incontinence,

uterine prolapse and fecal incontinence)

• OCPs with lower estrogen content

5. Eye issues

• Blue sclerae

• Mild myopia

• Unilateral ptosis

• Tilted optic disc

• Xerophthalmia

• Steeper corneas

• Minor lens opacities and vitreal abnormalities

• Myopia and dry eyes need monitoring

• Refer to ophthalmologist for annual eye

exam

6. Psychiatric issues

• High rate of anxiety, depression, anger and

interpersonal concern

• Primary and/or organic reason as well as

psychological difficulties secondary to

chronic pain and disability

Work with your physicians….

“We are not experts in medical science;

yet we are certainly experts in our

experiences and our personal values.

We are experts in what matters to us

and in the circumstances that will cause

us to embrace one treatment

strategy/lifestyle change and reject

another. These are issues which we

must teach our physicians, even as we

learn from them.”

Patient centered care by Don Berwick, MD

Medical Records

What is important?

1. Last echocardiogram

2. Last DEXA

3. Note from subspecialist: initial consultation

and most recent follow up note

4. Last imaging (if any)

5. Genetic test results (if any)

Supportive care

• 62% felt supported by family

• 52% supported by friends

• 25% by religious institutions

• 24% by employers

Murray et al; AJMG Nov 2013 161A

Follow up

• Different practices have different models

• Annual follow up with geneticist who

coordinates care

• When should you take your children for

evaluation?

• When to think about prenatal genetics

evaluation?

Your Team

• Geneticist

• PCP

• Cardiologist/Electrophysiologist

• Gastroenterologist

• Dentist

• Pain management

• Physical therapist

• Gynecologist

Finally, who is in charge?

YOU

Thank you

Questions