Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders affecting collagen that are generally characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.  There are 13 subtypes, and 19 genes coding for collagen have been identified for all types except hypermobile type. Each subtype has own diagnostic criteria and symptom picture, with some overlapping symptoms common to all EDS types. The 13 subtypes include:

• Classical EDS (cEDS)                                        
• Classical-like EDS (clEDS)
• Cardiac-valvular EDS (cvEDS)
• Vascular EDS (vEDS)
• Hypermobile EDS (hEDS)
• Arthrochalasia EDS (aEDS)
• Dermatosparaxis EDS (dEDS)
• Kyphoscoliotic EDS (kEDS)
• Brittle Cornea Syndrome (BCS)
• Spondylodysplastic EDS (spEDS)
• Musculocontractural EDS (mcEDS)
• Myopathic EDS (mEDS)
• Periodontal EDS (pEDS)

Classical, vascular, and hypermobile are the most common types.

Diagnosis

For all EDS subtypes, correct diagnosis is essential.  Clinical examination can identify signs and symptoms that may provide indications for specific subtypes.  The EDS Society has created a Diagnostic Checklist specifically for hEDS which can also be used to differentiate between hEDS and joint hypermobility syndrome. 

Genetic testing is the definitive diagnostic method to identify subtypes. Genetic testing can be done either as single gene testing or as a panel.  GeneDx Laboratory has created a panel to test for the currently known 57 genes related to Hereditary Disorders of Connective Tissue, which can be a very effective method to rule out many related disorders with one test.  If genetic testing identifies no mutations in any genes related to connective tissue, then it is assumed that the patient has hEDS as the genes associated with that subtype have not yet been identified.

Treatment

My perspective on treatment for EDS includes three areas. 

1. Support Collagen

The first area is to support EDS directly with correct diagnosis and referrals and naturopathic supports for connective tissue. These supports may include collagen, polysaccharides to reduce joint hypermobility, and pycnogenol to reduce collagen breakdown.  Some, but not all, of my patients have reported benefit from taking collagen.  Because collagen is a very low risk supplement and we don’t know what the exact issue is with collagen in hEDS, I do recommend a trial of collagen to start for patients with that diagnosis.  We reassess for each patient after at least a month or two of daily use.  It is also important to know your source for collagen to ensure that it is tested to be free of heavy metals and other chemicals.

Nutrients to support collagen production may come from diet or supplements and may include:

Vitamins/Minerals

• Vitamin C: citrus fruits, peppers, cherries, chives, parsley, rose hips, currants, guava, kale, tomatoes, leeks
• Silicon: oats, whole wheat, nuts, root vegetables, seafood, organ meats
• Iron: animal proteins and organ meats, shellfish, spinach, legumes, quinoa, pumpkin seeds, molasses, broccoli, tahini, tofu
• Zinc: meat, shellfish, legumes, hemp, squash, pumpkin, and sesame seeds, nuts, dairy, eggs
• Sulfur:  broccoli, onions, and garlic; consider MSM

Amino Acids

• Glycine: meat, fish, dairy, legumes
• Proline: gelatin, cheeses, beef, soy protein, cabbage, yogurt, asparagus, bamboo shoots, seaweed, mushrooms, sunflower seeds
• Lysine: avocados, apricots, mangoes, tomatoes, potatoes, pears, peppers, leeks, beets, legumes, soy, pumpkin seeds, cashews, pistachios, quinoa, amaranth, buckwheat, animal products, dairy
• Threonine: lentils, peanuts, eggs, animal proteins, chickpeas, beans, asparagus.
• Collagen: bone broth, meat, fish, meat/fish stocks, egg whites, spirulina

Additionally, patients should avoid sugar, smoking, and pollution as they negatively affect collagen and hydration is essential to collagen health. 

We may also need to consider an echocardiogram or eye exam if a patient has not already had one or had one recently.

• Other Conditions

The second area is to investigate, treat, and work with other practitioners for other conditions that are often seen at higher frequency in patients with EDS, including:  

• postural orthostatic tachycardia syndrome (POTS),
• dysautonomia,
• mast cell activation syndrome (MCAS),
• occult tethered cord,
• Chiari malformation,
• atlano-axial instability (AAI) / cranio-cervical instability (CCI), and/or
• intracranial hypertension.

It is important to know that any individual patient may not have ANY of these conditions.  However, because these conditions all can and do occur at higher frequencies in patients with EDS, I consider them for all of my patients with EDS.  We will assess them based on history and symptoms. 

• Assess and treat underlying factors

The third area is to work with patients to identify underlying factors that may be contributing or exacerbating their EDS symptoms as well as affecting their overall health as an individual.  These factors may include hormone imbalances, dietary issues and nutrient deficiencies, toxic exposures and detoxification needs, chronic infections, high cortisol/stress, and energetic patterns. For example, elevated cortisol can reduce collagen synthesis, so high levels of stress can have a negative impact on collagen production and joint hypermobility.

Treatment focuses on both the medicine of chemistry as well as physics.  The medicine of chemistry can include nutrients, herbs, and medications while the medicine of physics includes energetic treatments of acupuncture or aroma acu-therapy, biotherapeutic drainage, and homeopathy.  For example, many of the patients I have worked with who have EDS have shared that they have current or past issues around boundaries, support, and/or safety.  These issues can be very meaningful for patients, and may also serve as triggers for dysfunctional collagen, mast cells, and/or dysautonomia due to sympathetic nervous system activation.

Treatment for EDS also includes general lifestyle recommendations:                                      

• Pacing activity.  It can be helpful to keep a log of activities and note how patients feel so they can assess which activities they can do easily and which give them the most difficulty so they can plan their activities.
  • Keep in mind that for someone with EDS, an activity that “shouldn’t” be too much, sometimes is.
  • Keep in mind that sometimes an activity that is fine one day, might not be on another day depending on the weather, stress, sleep, or many other factors.
• Chiropractic: Patients need to avoid high force chiropractic techniques.  Chiropractic should include activator, muscle energy techniques, and non-force techniques only.
• Exercise: Patients need to be careful with exercise and yoga to watch their posture so they are not hyperextending or overdoing any activity.
• PT: Patients need to work with an EDS-knowledgeable PT with the goal of strengthening postural muscles, learning the best way to do certain activities, and assessing orthotics or bracing needs for any joints with frank instability.
• Massage: Patients need to avoid deep tissue, Rolfing, and range of motion/stretching. Consider lymphatic drainage massage to help with lymphatic movement, detoxification, and supporting lymphatic function at joints.  Additionally, patients need to advocate for themselves during massage because a bad massage could cause injury for someone with EDS.
• Acupuncture: In addition to acupuncture treatment, patients can consider aroma acu-therapy with essential oils to work with strengthening hypotonic joints and relaxing hypertonic muscles.

I describe EDS not as one condition, but rather a solar system that will vary in what it contains for each patient.  One patient may have EDS and POTS and a significant hormonal imbalance while another patient with EDS may have MCAS and a history of high toxic exposures and trauma.  A third patient with EDS may have high stress and an occult tethered cord.  Everyone is different, which is why I do not use standardized protocols in working with patients with EDS.  Treatment for EDS is very multi-faceted and may feel very complicated at times.  However, it is important to persevere to understand each individual person’s situation and take the time to delve into a patient’s lifelong history to identify symptoms that may help identify other associated conditions.    While patients with EDS may need to make modifications, I believe they can thrive and enjoy a high quality of life and may actually find that they learn very valuable things from their condition.

References

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