Paralympic Ambitions: Ehlers Danlos Syndrome-The Zebra Disease

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Ehlers Danlos Syndrome (EDS) is a hereditary collagen deformation disease that in all of its forms affects every 1 in 5,000 people [1]. Due to disease type and progression of EDS, symptoms can either be just noticeable or life changing. Although, it is barely heard of in today’s society it was one of the first diseases to be described by Hippocrates, 400BC.

It wasn’t until 1901 that dermatologists Edvard Ehlers recognised a collection of symptoms that was yet to be classified. In 1908 Henri-Alexandre Danlos used the work previously recorded by Ehlers to classify symptoms such as skin fragility and flexibility as a disease [2].

So, why the Zebra disease? The Ehlers Danlos Support UK perfectly describe this anecdotal tale behind it a colloquial name. In medical school students are taught the saying “when you hear the sounds of hooves, think horses, not zebras”. Literally speaking it means to assume the common disease instead of the rare. EDS is commonly misdiagnosed, mistaken or simply ignored, much like the “zebras”, thus it became their satirical mascot [3].

What are the clinical classifications of the disease?

There are numerous classifications of this disease, the 4 most common are:

  • Classical EDS
  • Hypermobililty-EDS
  • Vascular EDS
  • Kyphoscoliotic EDS

Classical EDS is a dominant gene mutation that affects the COL5A1 and COL5A2 genes responsible for producing collagen. This can lead to many symptoms such as “stretchy” skin and skin that appears fragile, easily bruised, cracked or grazed. Most concerning of the collagen-related symptoms is the potential for “Floppy valves”. Collagen plays a vital compositional role in connective tissues and structures throughout the body. One crucial structure is the heart and its Mitral valve. The Mitral valve is found on the left side of the heart and is responsible for maintaining pressures in the chambers. Loss of this function can lead to palpitations, shortness of breath and other more life-threatening symptoms [2].

Hypermobility EDS is a dominant gene form characterised much like its title suggests, by hypermobile joints. Frequently this form of EDS is mistaken for Joint Hypermobility Syndrome (JHS), however, EDS has the addition of gastrointestinal, autonomic and dermatological issues [2].

The other two forms are much rarer. Vascular EDS is a genetic dominant form which is characterised by bruising, fine thinning hair, thin nose and lips, premature ageing and lobeless ears. Lastly, Kyphoscoliotic EDS is typically recognised at birth or early years as the child has poor muscle tone and is delayed walking and crawling. Other clinical shows of this form are a curved spine, fragile arteries and reduced bone mass. This form is genetically recessive, which means there is only a 25% chance of the offspring contracting this rare form. The pathology of Kyphoscoliotic EDS is caused by lack of the enzyme Lysyl Hydroxylase which is needed to make collagen.

What Implications does it have on life?

Symptoms can be mild or life changing, one person who has learned to live and thrive with this disease is GB Olympic Fencer, Piers Gilliver. Piers Is a current member of the Great British Olympic team, he is ranked world number one for Men’s Epee and GB number one in Epee, Sabre and Foil [4]

As an elite athlete, I am very careful which supplements I choose to use. I take advice from my Nutritionist who outlines the necessary benefits of a supplement in relation to my sport, diet and most importantly my disability.

I have Myopathies and Ehlers-Danlos Syndrome type II/type III overlap. I have been advised not to take supplements that contain Caffeine as this has potential to make me “more stretchy”. I am naturally extremely hypermobile so this is best avoided! There is strong evidence to show the benefit in taking collagen-based supplements with EDS as I and many EDS people have faulty production and storage of collagen. However, Oral collagen is likely to be broken down and lost in the digestive process. I avidly take high doses of Omega 3 and Vitamin D as I have a tendency to have low Vitamin D levels due to the demands of my training and also spending a lot of time indoors in sports halls away from the sun! I think that good quality, batch tested, sports legal supplements can be of great benefit to the athletes and people with EDS when used alongside well-managed nutrition and diet.”-Piers Gilliver, GB Fencer*

How it is diagnosed

Diagnosis for this disease can be difficult and frequently overlooked. The current gold standard test for EDS is a skin biopsy in which a portion of skin is taken and microscopically examined for its collagen properties[1].

How can symptoms be improved?

A day in the life of an EDS patient involves a lot of focus, time, care and attention to their health and activities. Exercise is restricted, diet is controlled and medication advised to all to manage the typical symptoms of the disease.

Exercise

Exercise is highly recommended for EDS patients, particularly those who have the Hypermobile form. It’s advised to restrict and avoid heavy lifting, high exertion or strenuous sports as this can lead to tears of connective tissues or dislocation of joints. The best form of exercise for EDS people is jogging, walking, cycling and swimming [1].

Nutrition

There are many gastrointestinal ailments associated with EDS from reflux to indigestion and abdominal pain. It is advised that EDS patients should maintain a healthy weight as it is thought to reduce symptoms of pain. The EDS Organization provide brilliant information for following a low FODMAP diet. FODMAP is an initialism for “Low fermentable, oligosaccharides, disaccharides, monosaccharides and polyols.” Simply put it means avoiding foods such as barley, lentils, chickpeas, apples, pears and sugar alternatives/sweeteners. The Gastrointestinal problems caused in EDS can be due to the imbalance of gut bacteria.

It’s also suggested that EDS patients consume prebiotics and probiotics to stimulate and regulate healthy gut bacteria. Prebiotics are a “non-viable food source that provides a health benefit to the host, that is associated with the modulation of microbiota”. This includes foods such as chicory artichoke, garlic and bananas. On the other hand, Probiotics are elements of bacteria that are able to survive the conditions of the gastrointestinal tract. These include Miso, Sauerkraut and Kimichi [3].

Supplements

Due to the multitude of health ailments an EDS person may have, there are many supplements suggested to them.

The majority of pain and discomfort associated with EDS is centred around the bones and joints. Progressive EDS can lead to fragility, hypermobility and rickets. It’s recommended that Calcium and Vitamin D3 are taken in conjunction with one another. Calcium is vital for the structure of bone and Vitamin D is used in the body to increase Calcium absorption. MSM (methyl-sulphonyl-methane) is used within the body to make bone collagen and connective tissue. Daily intake of MSM is thought to decrease the risk of osteoporosis and dislocations while increasing artery and joint flexibility. Glucosamine is a very similar product in term of effects, promoting the health of the bones, joints and connective tissues. Within the body, Glucosamine forms glycosaminoglycans (GAG) which form a solid base for the repair of damaged tissue. A large proportion of Vitamin C consumed is used to make collagen which is used to produce connective tissues. By maintaining the health of the connective tissues it aids prevention of dislocations and promotes steadier joints. Finally, there is Chondroitin which is a sulphated GAG tasked with lubricating the joint.

For Gastrointestinal problems, EDS patients are advised to take Probiotic, such as Acidophilus Lactobacillus. Probiotics are live bacteria recommended to supply the gut with beneficial health-promoting bacteria. This claims to reduce discomfort, bloating, pain and other gastric-associated symptoms. Many will also have an issue with Mast Cell Activation Disease (MCAD), it is, therefore, advisable to take Quercetin with will ease these symptoms. [6]

Many suffer from pain due to EDS, it can deeply affect their ability to sleep, some even nickname it “painsomnia”. Suggested for its reduction of inflammation are Turmeric and Black Pepper. The active ingredient of Turmeric is Curcumin and the active ingredient of Black Pepper is Piperine. By combining the two herbs it actively targets inflammation around the joints which causes pain [6]. In addition, Omega 3 fatty acids are important for not only pain but for fatigue and cellular damage [8]. “Painsomnia” can prevent a person from sleeping, to soothe and regulate sleep patterns an EDS patient may want to consider taking 5-HTP (5-hydroxytryptophan) a pre-cursor of L-tryptophan. 5-HTP has been shown to regulate sleep patterns. Additionally, it can help to increase concentration, which may aid “brain fog” typically described by many EDS people.

A typical symptom of EDS is bruising of the skin. It is believed that if a person takes a Vitamin K supplement this is likely to reduce the skin’s ease of bruising and increase the blood’s clotting ability.

In addition, Mitral valve prolapse has been shown to worsen in those with a magnesium deficiency, so a high dose Magnesium supplement may be advisable.

Lastly, EDS patients typically suffer from fatigue and lack of energy, this can be naturally boosted by taking a Vitamin B complex or Vitamin C. The B and C Vitamins are used to by the body as co-factors to generate energy, particularly Vitamin B2, B3, B6 and B12. Moreover, specialists frequently suggest the intake of Carnitine in conjunction with Co-Q10. Other natural, herbal sources of energy can be the Cordyceps Mushroom or Maca Root Extract [6,7,8].

Let’s Raise Awareness ...

For more information, donations and awareness please have a look at :

Ehlers Danlos Organisation UK

Ehlers Danlos Society

EDS-Youtube

EDS Awareness

*Please note Piers is in no way affiliated with this brand.

  1. NIH-U.S National Library of Medicine. (2015). Ehlers-Danlos Syndrome. Available: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#
  2. Parapia,LA. Jackson, C. (2008). Ehlers-Danlos syndrome--a historical review.. British Journal of Hematology . 141 (1), Pg. 32-35.
  3. EDS. (2016). What is EDS?. Available: http://www.ehlers-danlos.org/about-eds/.
  4. Gilliver.P. (2015). Piers Gilliver GBR Wheelchair Fencer. Available: http://www.piersgilliver.co.uk/.
  5. Cummings,J. Mann,J. (2012). 3.10.5-Carbohydrates-Prebiotics. In: Mann,J. Truswell,S. Essentials of Human Nutrition. 4th ed. Oxford: Oxford University Press. Pg.44-45.
  6. Collins.H. (2015). Dietary and nutritional supplement general guidelines for persons with Ehlers-Danlos syndrome. Available: https://issuu.com/markmartino8/docs/eds_nutrition_and_supplements_heidi.
  7. Davis, Danielle. (2009). WHY: Vitamins, Minerals & Herbs. Available: http://www.lifewitheds.com/2009/06/why-vitamins-minerals-herbs.html.
  8. Mantle, D. Wilkins, R.M. Preedy,V. (2015). Nutritional, Therapeutic Strategy for Ehlers–Danlos Syndrome. Available: http://www.chronicpainpartners.com/nutritional-therapeutic-strategy-for-ehlers-danlos-syndrome/

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