Ehlers-Danlos Syndrome (EDS)

Doreen McMahon, MDNOVA NeuroIntegrative Medicine

McLean, Virginia

Ehlers-Danlos Syndrome• Problem with the proteins that make up connective tissue. Collagen is most frequently

implicated.

• Proteins and/or their organization is faulty.

• Can affect every structural element of the body including bones, ligaments, tendons, fascia and skin.

• Prevalence is as high as 2-3% of the population with a female:male of 8:1. “Most common systemic inherited connective tissue disorder in humans”.

• Genetic analysis has identified many types, but not the most common (80-90%)—Hypermobility type EDS (hEDS). Inherited as autosomal dominant.

Collagen Structures

Organization of Collagen in a TendonThere are many ways this can go wrong!

Man

EDS—HypermobilitySigns and Symptoms

• Hypermobility—joints move beyond the expected range. Do Beighton scoring.

• Joint and muscle pain. Ilio-tibial (IT) band syndrome, aka snapping hip. Pelvic floor issues.

• Skin may be soft and velvety with increased elasticity and impaired wound healing.

• Fatigue, poorly restorative sleep, decreased cognition and memory, headaches.

• Gastrointestinal complaints: GERD, bloating, pain, constipation, diarrhea.

• Mitral valve issues.

Beighton ScoringIf any 2 are yes, then 85% chance of diagnosis of hypermobility

syndrome.

1. Can you place your hands flat on the floor without bending your knees?

2. Can you bend your thumb to touch your forearm?

3. As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?

4. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?

5. Do you consider yourself double jointed?

As hEDS progresses, Beighton score tends to decrease:

1. Hypermobility stage (children and young adults): Contortionism, sprains, dislocations. Pain, especially in lower limbs “growing pains”, but can happen with fine motor tasks. Easily fatigued. May have hypotonia.

2. Pain phase (teens to young adulthood): generalized and progressive musculoskeletal pain (“fibromyalgia”, “pelvic pain”), headaches, paresthesias, functional GI complaints, orthostatic issues (“POTS”, Neurally Mediated Hypotension), fatigue.

3. Stiffness phase: increased pain and fatigue as injuries accumulate, muscle mass decreases—>weakness, poor proprioception.

Pain in hEDS can be Multifactorial

• Direct trauma

• Muscle spasms—>tendons

• Nerve entrapments

• Headache and TMJ

• Decreased blood pressure—>throbbing headaches

• Central nervous system sensitization

Headaches can be Multifactorial in hEDS

• Cervical spinal hypermobility

• Cranio-cervical joint instability

• Muscle tension and spasms

• TMJ

• Cerebral spinal fluid leaks

• Decreased cerebral perfusion from autonomic dysfunction

hEDS: over 75% have autonomic nervous system dysfunction

• Sympathetic nervous system dysfunctions: POTS, NMH, palpitations, chest pain, fatigue, dizziness, fainting.

• Parasympathetic nervous system dysfunctions: gastrointestinal and bladder symptoms, “psychological traits”.

“Psychological Traits” in hEDS

• Greatly increased incidence of depression and anxiety.

• Leads to negative thinking, hopelessness, increased pain, decreased quality of life.

• Strains interpersonal relationships: family, friends and health care providers. Get labelled: “whiners”, “doctor/therapist shoppers”.

hEDS Patient• Diagnosed with depression at age 16. Multiple medications

including SSRIs, tricyclics, mood stabilizers, anxiolytics and anti-psychotics are ineffective.

• Abnormal MSLT, “atypical narcolepsy”. Starts stimulant medications—helps somewhat.

• Exercise-induced asthma diagnosed. Inhalers ineffective.

• Irritable bowel/GERD diagnosed. Work up shows gallbladder disease. Cholecystectomy resolves “asthma”.

• Work-up for dizziness, fatigue, palpitations and chronic daily headaches—>POTS. Does not improve with “high salt diet”.

• At age 21, EDS diagnosed at Johns Hopkins.

• Graduates from college and comes home to start photography business. Physical difficulties with handling equipment. Dizziness, palpitations, fatigue (sleep is not refreshing), chronic daily headaches, brain fog/disorganized. Working with kinesiologist with some improvement.

• Age 25, unable to get business off the ground. Wants to see if neurofeedback will help.

• Exam: 4/5 Beighton Score, mitral valve click, generalized muscle spasms with pain to touch, prefers to sit in contracted position.

• Begin neurofeedback at T4-P4 for physical calming, pain control, sleep. Training frequency from 0.1—>0.01 (lowest frequency available at that time) over 2 sessions.

• Session 3: added T3-T4 for headaches. Provoked headache. Frequency adjustments did not help.

• Session 4: same as session 3.

• Session 5: back to T4-P4 alone. Does well.

• Session 9: Add Fp2-T4 for anxiety, mood and sleep. Mother calls to say that patient is getting back to her old self!

• Session 11: Patient feels like she is more normal. Add T3-T4 again without problem.

• Session 15: Add FP1-T3 at 0.02 for executive functioning: focus, organization.

• Session 21: Feeling well enough to go on a photography assignment abroad.

• Session 22: Work trip went well. It is obvious to her that she is doing much better.

• Session 58: New Cygnet settings available: titrate down to 0.006 over several sessions (Fp1-T3 to 0.01).

• Session 72: Decrease training frequency to 0.005 after poor sleep and headaches do not improve after work trip abroad.

• Session 93: Business is prospering. Gets big job abroad.

April 2019