Transcript here - The Kelly Clinic

Case Presentation
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52 year-old married female dentist with two adult children
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CC: chronic diarrhea
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PMH: Depression, generalized anxiety, “thyroid disease”,
“fibromyalgia” and peri-menopause
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Medications: fluoxetine (prozac) and levothyroxine
(synthroid)
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Allergies: NKDA
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Surgical history: None, 2 NSVDs with no complications
Case Presentation
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Intermittent diarrhea and constipation (IBS-like symptoms)
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Wonders if GI symptoms related to “something I’m eating”
or an infection (possibly related to travel)?
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Denies fevers, chills or night sweats. No significant weight
loss.
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c/o significant fatigue that has not improved with treatment
of autoimmune thyroid disease (Hashimoto’s thyroiditis)
Review of Systems
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Expresses concern about increasing episodes of debilitating
headaches and difficulty focusing at times
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Occasional palpitations, particularly when “standing up too
quickly”
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Others have labeled her as a “hypochondriac” or implied
that her symptoms are not “real”
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Recently diagnosed with fibromyalgia
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Notices similar symptoms in her daughter
What is it?
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“If you cannot connect the issues, think connective tissues” –
Laura Bloom.
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https://www.youtube.com/watch?v=Gkorh94PTFg
EDS: What is it?

A group of inherited disorders caused by qualitative and/or
quantitative abnormalities in collagen production

Collagen is present in nearly every tissue and organ system
in the body

EDS associated with many widespread complications and
symptoms; tissues often involved are skin, joints, and blood
vessel walls

There are 6 major types that vary in their specific cause and
presentation (dependent on the form of collagen affected)
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Recorded prevalence of 1 in 2,500 (often misdiagnosed)

Most cases inherited in autosomal dominant pattern
Major Symptoms

Stretchy, loose, and/or “velvety” skin

Flexible joints with hypermobility (causes chronic joint
pain, damage and reactive muscle pain)

Abnormal wound healing

Joint dislocations and/or partial dislocations (aka
subluxations)

Easy bruising
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Muscle pain and weakness
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Heart and vascular problems such as aneurysms, MVP,
aortic root dilatation

Organ rupture, hernia
Joint and Skin Findings

Associated Conditions
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Autoimmune thyroid disease
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Chronic pelvic pain from endometriosis and/or pelvic congestion syndrome
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Depression, generalized anxiety disorder and obsessive compulsive disorder
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Chiari malformation
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GI symptoms/IBS related to mast cell activation disorder (MCAD) and “leaky gut”
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Autonomic dysfunction from Postural Orthostatic Tachycardic Syndrome (POTS)
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Temporomandibular Joint Dysfunction (aka TMJ)
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Chronic (daily) headache
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Reduced responsiveness to anesthetics and opiate pain medication
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Clumsiness, falls, trauma, etc. due to decreased proprioception and strength
Natural History
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Childhood
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Young adulthood
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Diagnosis of EDS in children requires high suspicion
EDS kids often have chronic, repetitive complaints of nonspecific pain (“growing pains”, joint aching, headaches) and
FATIGUE (? Depression)
May have increased risk of fractures
Relatively asymptomatic
Hypermobility of childhood persists or progresses
Adulthood = Restrictive phase of disease, degenerative
arthritis predominates
Differential Diagnoses

Fibromyalgia

Lyme disease

Seronegative arthritis

Munchausen’s Syndrome, Conversion Disorder

Marfan Syndrome

Osteogenesis Imperfecta
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Other rare conditions: Loeys-Dietz Syndrome, Stickler
Syndrome, Williams Syndrome, Aarskog-Scott
Syndrome, Fragile X Syndrome, Achondroplasia,
hypochondroplasia
Classical Type (Types I & II)
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Generalized hyperextensibility of joints and skin
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Easy bruising, hemarthroses
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Poor wound healing and retention of sutures
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Congenital dislocation of hips
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Scoliosis
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Mitral valve prolapse
EDS – Classic
Type
Hypermobility Type (Type
III)
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Most common type (reported in up to 1 in 5,000, probably
MUCH higher)
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Exact cause unknown; no genetic test available
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Autosomal dominant inheritance
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Cardinal feature: Joint hyper-extensibility
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Chronic degenerative joint disease with advanced,
premature osteoarthritis
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Less skin involvement
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Mitral valve prolapse
EDS - Hypermobility
EDS - Hypermobility
Vascular Type (Type IV)

Most serious type (1 in 250,000)
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Prone to ruptured/dissected arteries and aneurysms,
intestinal and uterine rupture
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Easy bruising
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Visible veins beneath thin, translucent skin
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Characteristic facies: protruding eyes, thin nose/lips,
sunken cheeks, small chin
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Joint involvement variable

Relative deficiency in type III collagen
EDS – Vascular Type
Kyphoscoliosis Type (Type
VI)
Arthrochalasia Type (Type
VIIA/VIIB)
Dermatosparaxis Type
(Type VIIC)
Kyphoscoliosis Type
Diagnosis

Family History/Pedigree

Physical Exam/History
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Laboratory studies: rule out rheumatologic
disease and assess disease status

Genetic testing (PCR) for known diseasecausing mutations (classical, vascular,
kyphoscoliosis and arthrochalasis types)
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Others testing: skin biopsy, urine test
(kyphoscoliosis type), prenatal and preimplantation testing
Treatment
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No specific cure available
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Goal: Manage symptoms and prevent complications
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Important EDS screening:
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Echocardiogram
DEXA scan
CNS imaging (including vascular scans)
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Patient education and genetic counseling
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Rehabilitation and Maintenance – PT/OT, aquatic therapy
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Postural training and body awareness
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Chronic pain management
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Orthopedic surgery (in skilled hands)
Disease Cycle of EDS
Joint pain &
Fatigue
Decreased
mobility
Depression
Disruption in
Neurotransmitters
Non-restorative
Sleep
Stress/Anxiety
Adrenal Fatigue &
Hormonal Imbalances
Managing Hypermobility
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Goal: Prevention of disease progression and disability,
restoration of normal form and function
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PT/OT – Strengthening muscles within a normal (reduced)
range of motion
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Splinting when necessary for healing
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Avoidance of high impact activities or activities that
promote hypermobility (dance, gymnastics, yoga, etc.)
What is helpful?
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Adhering to a healthy (paleo-like) LIFESTYLE
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Remaining mentally and physically active
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Getting enough….but not too much…rest
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Social support
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Cognitive behavioral therapy
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Mindful selection of supplements and medications
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Medical THC ?
References

Klippel, John. Primer on the Rheumatic Diseases. Edition 12.
Atlanta, GA: Arthritis Foundation; 2001: 584-586.

www.utdol.com

www.mayoclinic.com

Ramanath VS, Oh JK, Sundt III TM, Eagle KA. Acute Aortic
Syndromes and Thoracic Aortic Aneurysm. Mayo Clinic
Proceedings. 2009; 84(5):465-479.

Beighton P, DePaepe A, Steinmann B, Tsipouras
P and Wenstrup RJ. Ehlers-Danlos Syndromes: Revised
Nosology, Villefranche, 1977. Am J Med Gen 1998; 77: 31-37
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http://www.ncbi.nlm.nih.gov
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https://www.youtube.com/watch?v=HkYr_WY-TRA