Evaluation and Non-Surgical Management of Patients with Hypermobile EDS - PowerPoint Presentation

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Evaluation and Non-Surgical Management of Patients with Hypermobile EDS

Clair A Francomano, MD

Director, Adult Genetics, The Harvey Institute for Human Genetics

Director, The EDNF Center for Clinical Care and Research

Greater Baltimore Medical Center

Hypermobile EDS is a Complex Disorder

Musculoskeletal – Joint laxity, chronic musculoskeletal pain

Cardiovascular – Orthostatic intolerance,

valvular

dysplasia

Neurologic – cervical-medullary syndrome, spine instability, headaches, Chiari, tethered cord, Reflex sympathetic dystrophy,

dystonias

, central

pain sensitization

Gastrointestinal – motility disorders, abdominal pain, bloating, gas, IBS

Urologic – interstitial cystitis, neurogenic bladder, pelvic floor dysfunction

Hematology/immunology – mast cell activation disorder, primary immune deficiencies, autoimmune conditions,

thrombophilia, post-infectious

encephalopathies

Musculoskeletal evaluation

Inquire about known laxity/instability, subluxations/dislocations, sources of pain

History of injury? Frequent sprains?

Is the patient using any kinds of bracing? If so, are they effective?

Examination –

Beighton

score, neck mobility, shoulders, hips, small joints in hands, presence of pes planus,

ankle pronation

Cardiovascular Evaluation

History – does the patient report feeling dizzy or woozy when going from a supine to sitting or standing position? Is there a history of palpitations? Intolerance of upright posture for long periods of time?

Examination – Measure vital signs. Orthostatic vital signs if orthostatic intolerance is reported

Echocardiogram

Consider

holter

monitor if palpitations are frequent or troubling

Tilt table test

Neurologic evaluation

History – inquire about headaches, brainstem symptoms, burning/electrical pain, low back pain, urinary and/or bowel incontinence, weakness, sexual dysfunction, history of “growing pains,” history of toe-walking

Examination – full neurologic exam including cranial

nerve

testing, reflexes in all extremities,

presence of

clonus, testing for proprioception, Babinski reflex, sensation to light touch and pinprick, Romberg, cerebellar signs.

If signs and symptoms are suggestive of cervical-medullary syndrome, MRI of the brain and neck in an upright position, with flexion and extension views of the neck. Urodynamic studies if tethered cord is suspected.

MRV if increased intracranial pressure is suspected

Symptoms of Cervical-Medullary Syndrome

Headache

,

suboccipital

or neck pain

Bulbar

symptoms: altered vision, diplopia , nystagmus, decreased hearing,

dizziness

, imbalance, vertigo,

choking

, dysarthria,

dysphagia,dysautonomia

, POTS, syncope or

pre-syncope, disordered

sleep architecture and sleep apnea

Symptoms

of myelopathy: weakness, clumsiness, spasticity, altered sensation, paresthesia, dysesthesia, change in gait , urinary urgency and frequency

The Consensus

Statement: Chiari

Syringomyelia

Foundation Multi-disciplinary

Colloquium for

Craniocervical

Hypermobility, San Francisco, October 19

th

, 2013

Gastrointestinal evaluation

History – IBS, bloating, abdominal pain, diarrhea, constipation, stool incontinence, food intolerance, GERD, esophageal reflux, hernias

Exam – presence of bloating or distension,

organomegaly

, bowel sounds (over- or under-active), pain on palpation

History of vitamin or other nutrient deficiencies – especially vitamin D and iron/ferritin. More common in people on proton-pump inhibitors or H-2 blockers that increase the pH in the stomach.

Urologic evaluation

History – inquire about urinary urgency, frequency, burning on urination, difficulty initiating the urinary stream, difficulty emptying the bladder completely, urinary dribbling or frank incontinence, frequent urinary tract infections (especially culture negative)

Examination – check for tenderness over the symphysis pubis

Urodynamic testing to look for neurogenic bladder if suspicious of tethered cord

Pudendal nerve conduction studies may also point to compression of the cauda

equina

Referral to

urogynecology

for assessment of pelvic floor muscles and possible assessment for mast cell activation in the bladder

Hematology/Allergy/Immunology

History of hives, rashes, flushing, itching, frequent infections, severe allergies, diagnosis of auto-immune

disorder, history of blood clots

On exam – note presence of flushing, particularly around the neck and chest, presence of erythema after the blood pressure is taken, look for

dermatographia

(ability to write on skin with the pressure of a fingernail)

If history of frequent infections is elicited, consider immunologic work-up to assess levels of antibodies and population of T and B cells

Musculoskeletal treatment strategies

Stabilize unstable joints on an as needed basis. Braces do not cause weakness if the patient continues to use their muscles

Physical therapy for muscle relaxation – to include deep heat, ultrasound, massage, TENS machine, far infrared laser therapy

Myofascial trigger point release – dry needling

If the TENS machine is helpful in the PT office, consider using one at home

Epsom salts baths or foot baths will help with muscle relaxation

PT for toning and strengthening muscles – particularly consider aquatic PT

Compounded analgesic cream – diclofenac, cyclobenzaprine, baclofen, gabapentin, lidocaine, magnesium

Muscle relaxants if necessary

Beware

botox

Cardiovascular treatment strategies

Ensure adequate salt and fluid intake if orthostatic intolerance is reported

Compression hose may be helpful

Nuun

active hydration tablets or

Saltstick

capsules can help replete salt

Rarely, may encounter an arrhythmia that requires cardiovascular intervention (but would be sure to r/o mast cell activation first)

Neurologic intervention

If MRI shows Chiari, reduced

Clivo

-axial angle or basilar impression – refer to neurosurgery

Urodynamic studies suggestive of neurogenic bladder – refer to neurosurgery for tethered cord assessment

Support head and neck with Aspen Vista collar if patient reports “bobble head”

Consider Diamox (acetazolamide) for increased intracranial pressure

Central pain sensitization may be responsive to vagal stimulation or cognitive behavioral therapy

Consider TMJ correction as a possible contributor to neck and head pain

Gastrointestinal intervention

Pro-kinetic drugs may help if motility studies show gastroparesis or low bowel motility

If IBS is diarrhea-dominant and accompanied by abdominal pain, gas and bloating, consider mast cell protocol

If the patient is on opiate medication, consider use of bowel-specific opiate antagonist

Ensure adequate nutrition; try to minimize use of proton-pump inhibitors; vitamin supplementation prior to first dose if reducing gastric acid is necessary

Urologic interventions

Pelvic PT for pelvic floor dysfunction

Mast cell protocol if interstitial cystitis has been diagnosed

If urodynamic studies indicate a neurogenic bladder, and tethered cord questionnaire and physical exam are suggestive of tethered cord, refer to neurosurgery

Mast cell protocol

H1- and H2- blockade

Zyrtec 10 mg daily; may increase to 10 mg twice daily

Zantac 150 mg twice daily, may increase to 300 mg twice daily

Stabilize mast cells

Cromolyn

sodium 20 mg/ml, 5 ml vial in water four times daily, may increase to two 5 ml vials in water four times

daiy

Quercetin 500-600 mg four times a day may also be helpful

Low histamine diet

See also www.thelowhistaminechef.com

Other Hematology/Allergy/Immunology

issues

Anticoagulation for thrombosis/thrombophilia predisposition

Autoimmune

conditions – consider use of the

Wahls

protocol by Dr. Terry

Wahls

May need

IVIg

or

plasmaphoresis

in face of serious auto-immune conditions, including auto-immune encephalopathies

Ensure adequate levels of vitamin D (shoot for target between 40-50 ng/dl). Usual “normal ranges” may go as low as 20 in many labs. Patients with higher gastric pH may need increased supplementation to achieve therapeutic levels.

Coping

Cognitive behavioral therapy

Mindfulness-based stress

reduction

Biofeedback/Neural feedback

Patient support groups

Exercise