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Ehlers-Danlos syndrome: more common in gymnasts

Gymnastics is a sport that places high demands on young, growing bodies due to the repetitive impact and high strength-based training regime. 

As this is a sport that requires a phenomenal degree of flexibility in addition to strength, being aware of the condition, Ehlers-Danlos syndrome is essential when consulting with gymnasts.

Ehlers-Danlos Syndrome is group of disorders that affect the connective tissues caused by genetic mutations that disrupt the production or processing of collagen or prevent these molecules from being assembled correctly. With several genetic mutations that can be implicated, there are 13 different categories of Ehlers-Danlos Syndrome, with the most common type being ‘hypermobile’.2

Common symptoms include joint hypermobility, joint and muscle pain, susceptibility to injury/arthritis, skin and vascular problems (including easy bruising, bleeding, varicose veins and poor tissue healing), cardiac mitral valve prolapse, musculoskeletal problems such as myopathy, myalgia, spinal scoliosis and osteoporosis.3

Keeping up with the nutritional demands for a child’s growth and development can be challenging at the best of times, with the additional needs of an athlete – nutritional deficiencies are extremely common with studies indicating nutritional intake of specific nutrients; folate, vitamins D, E and K; and minerals, including calcium, iron, boron and magnesium to be inadequate in gymnasts.1

Mantle et al4 published a novel therapeutic strategy for Ehlers-Danlos syndrome based on specific nutrient combination including calcium, carnitine, CoQ10, magnesium, silica, vitamin C and vitamin K. The article recognised that nutrition can be a major factor in the pathogenesis even in disorders resulting from defective genes and supplementation could promote improved tissue function.


Case Study


A 15-year-old girl presented with chronic back pain and right hip pain. She was a gymnast in an international elite program and was training 26 hours per week. She had just competed at the Australian Championships but had to rely on prescribed anti-inflammatories and ice baths to manage the pain exacerbated by the training and competing schedule.

Her mother was concerned about the frequent use of anti-inflammatories that her daughter required, and they wanted to look at natural ways to support her body. The daughter’s priority was her performance in the sport. She was plagued by frequent injuries and was frustrated about the impact on her progress within the sport.


Systems Review

Patient had a long history of gut issues and was currently experiencing bloating daily. She had noticed that onion would often exacerbate it, but was inconsistent. She occasionally experienced bouts of nausea leading to reduced appetite. She often didn’t eat breakfast due to early morning training. She had suffered with long-term constipation from an early age and current bowel movements were every 3-4 days. Her mother couldn’t remember age of onset but recalled the paediatrician recommending liquid paraffin around 3 years of age.

Patient had menarche 2 years prior and had a 31 days menstrual cycle. She experienced fatigue at times that tended to be worse around her period and had substantial premenstrual syndrome (PMS) with mood changes and headaches.

Medical history mainly comprised of injuries:

  • Elbow injury at 11 years
  • Broken a 4th toe on left foot at 13 years of age
  • Several bouts of back pain that lasted several weeks and was only relieved by reducing her training load. Her back hurt on and off with prolonged standing
  • Right hip pain had started 3 months prior


Initial Recommendations:

  • Prescribed Curcumin as phospholipid complex 90mg twice daily
  • Magnesium powder with B vitamins, carnitine and calcium providing 315mg magnesium/day
  • Referred to sports physiotherapist (who was an ex-gymnast) for assessment of Ehlers-Danlos syndrome and current hip injury
  • Referred to GP for investigations into full blood count, iron studies, vitamin D, serum folate and vitamin D


2-Week Follow-Up


Patient reported improvements in pain with curcumin and magnesium resulting in a reduced use of anti-inflammatories by 50%.

Reviewed blood tests which indicated iron and vitamin D deficiency (Table 1). Haemoglobin was borderline for anaemia with microcytic red blood cells that were consistent with an iron deficiency.


Table 1: Key Pathology Findings


The GP had referred the patient on for an MRI and appointment with an orthopaedic surgeon following the physiotherapists findings.


Prescription:

  • Ubiquinol 150mg/day
  • Hydrolysed gelatin 10g/day
  • Iron as bisglycinate providing 24mg iron daily
  • Vitamin D spray: 3,000IU daily
  • Continue with magnesium and curcumin


4-Week Follow-Up


The patient reported significant improvements in her pain symptoms and had ceased all anti-inflammatory medication. Bowel movements had responded rapidly, and she was now going every 1-2 days. The sports physiotherapist had also consulted with her coach to discuss how the training regime could be modified.

She had consulted with the surgeon who confirmed a labral tear and surgery had been scheduled for 10 days. She was advised to cease all supplements 7 days prior to surgery. For the initial 7 days post-surgery, to support the inflammatory phase of healing she was recommended to:

  • Add Echinacea (blend of angustifolia and E. purpurea providing 4.6mg of alkylamides per tablet) three times daily.
  • Avoid magnesium powder and curcumin (resume 7 days post)
  • 7 days later to start herbal formula containing Grapeseed extract, Gotu kola, Gingko, vitamin C and zinc: 1 tablet three times daily
  • Discussed fibre foods and including chia seed puddings with berries for breakfast


10-Week Follow-Up


She had recovered well from surgery and was feeling so much better. “I can’t ever remember feeling this good, I have no pain and just so much more energy, even when I have had a break from training”. She felt that the herbal formula and gelatine had really been key to the improvement she was experiencing.

Repeat blood tests showed that her ferritin had increased to 25ug/L and vitamin D to 110nmol/L. Accordingly her prescription was changed to reduce the vitamin D to 1,000IU/day.


16-Week Follow-Up 


She was back in training – still building her strength but making gains that she hadn’t been able to achieve before treatment. She wanted to continue with treatment and hadn’t realised how happy she would be with less chronic pain. Her mum was just as happy with the progress and pleased to report that her daughter’s PMS symptoms have been remarkably less in the previous couple of months.


Discussion


This case study provides a basis of how herbs and specific nutrients can be utilised to improve symptoms experienced by a young athlete with Ehlers-Danlos syndrome.

A consideration that was not employed in this case is palmitoylethanolamide (PEA). PEA was not available at the time, but it is worth mentioning as 68% of Ehlers-Danlos patients with chronic pain also have neuropathic pain and central sensitisation so PEA may be a useful adjunct to their treatment.

Given that there is currently no medical treatment for Ehlers-Danlos Syndrome, herbal medicine and nutrition can play a vital role in reducing pain, improving quality of life and reducing risk of chronic complications such as cardiovascular and bone manifestations. 


References

  1. Michopoulou E, et al. Elite Premenarcheal Rhythmic Gymnasts Demonstrate Energy and Dietary Intake Deficiencies During Periods of Intense Training. Pediatr Exercise 2011; 23: 560-572
  2. Genetics Home Reference. Ehlers-Danlos Syndrome. National Institutes of Health; published April 28. 2020. Avail from ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#inheritance
  3. Shirley ED, et al. Ehlers-Danlos Syndrome in Orthopaedics; Etiology, Diagnosis and Treatment Implications. Sports Health 2012; 4(5):394-403
  4. Mantle D et al. A Novel Therapeutic Strategy for Ehlers-Danlos Syndrome based on Nutritional Supplements. Med Hypotheses 2005; 64(2):279-83
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