Ehlers-Danlos Syndrome

by Celeste Cooper

June is “chronic pain awareness month,”  so I am featuring Ehlers-Danlos Syndrome Awareness, because last May, EDS official awareness month, was already a busy time for many NEI conditions. EDS can occur in some fibromyalgia, chronic fatigue syndrome and myofascial pain syndrome patients, even though it is a rare condition.

Ehlers-Danlos Syndromes (EDS),  pronounced ey-lerz dan-los, are genetically passed from parents to offspring. It is characterized by joint hypermobility, skin extensibility and tissue fragility due abnormal genes that produce atypical proteins that result in imperfection of collagen, which is the protein glue for our tissue.

There are now thought to be six types of EDS. 1) The Classical Type, 2)  The Hypermobility Type , 3) The Vascular Type , 4) The Arthrochalasia,  5)The Dermatosparaxis, and 6) The Tenascin-X Deficient.

Symptoms may vary depending upon the type, but there are general symptoms.

  • Loose, unstable joints prone to injury
  • Osteoarthritis at an early age
  • Easy bruising
  • Dysautonomia
  • Mitral valve prolapsed
  • Flat feet or club feet
  • High and narrow palate with teeth crowding
  • Vulnerability to chest and sinus infections
  • Fragile blood vessels
  • Velvety-smooth skin which may be stretchy
  • Abnormal wound healing and scar formation
  • Low muscle tone and weakness
  • Muscle and joint pain

Other criteria may include:

  • Family history
  • Headaches caused by resulting
  • Arnold-Chiari malformation, also noted in some FM patients. Low bone density
  • Problems with proprioception, where body parts are in relation to space.
  • Problems with processing  information rapidly
  • Club foot,  especially in the Vascular type
  • Spinal deformities
  • Functional gastrointestinal disorders, such as delayed stomach emptying, inflammation of the stomach, and irritable bowel syndrome 
  • Gum disease
  • Nerve compression disorders, carpal tunnel syndrome and neuropathies
  • Vascular skin conditions, such as Raynaud’s and skin moddling due to a sympatheric nerve response, known as livedo reticularis .
  • Blue sclera of the eye
  • Finger deformity
  • Insensitivity to local anesthetics
  • Rupture of organ connective tissue
  • Blood cells called platelets which are important to clotting do not clump together
  • Weak muscle tone in infancy, which can delay the development of motor skills such as sitting, standing, and walking

The Classical Type of EDS  The Classical Type of EDS  is characterized by highly elastic, soft, and doughy skin; unusual scarring; and loose joints.  This type of Ehlers-Danlos Syndrome combines the types formerly called I and II.  Ehlers-Danlos Syndrome, Classical Type is a subtype of Ehlers-Danlos Syndrome.

Hypermobility Type of EDS is characterized by loose joints and chronic joint pain. This form of Ehlers-Danlos Syndrome was formerly called type III.  Ehlers-Danlos Syndrome, Hypermobility Type is a subtype of Ehlers-Danlos Syndrome….

The Vascular Type of EDS is characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma.  The Vascular Type of EDS is the most serious form of Ehlers-Danlos Syndrome….

Arthrochalasia Type of EDS is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS

Dermatosparaxis Type of EDS is characterized by severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.

Dermatosparaxis Type of EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.

Tenascin-X Deficient Type of EDS is characterized by joint hypermobility, hyperelastic skin, and fragile tissue. Lacking multiple shrinking (atrophied) scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome.

If you suspect you may have or have been diagnosed with EDS, there is a plethora of information at the Ehlers-Danlos Syndrome Network.

The Ehlers-Danlos Syndrome National Foundation

As discussed in Integrative Therapies for Fibromyalgia, Chronic Fatigue Syndrome, and Myofascial Pain: The Mind Body Connection, some of the symptoms of Ehlers-Danlos Syndrome overlap with FM and CFID, however the diagnostic criteria is different, therefore it can be considered a mimicking or co-existing condition. Joint hypermobility and skin disorders have been more frequently observed in children with CFID than in otherwise healthy children, (Baron, et, al, 2002), and  some types of EDS can perpetuate the development of myofascial pain syndrome. 

Stretching is often indicated for FM and CFID with comorbid MPS, however, if EDS is also present one much use great care, because overstretching already lax tendons can increase the likelihood of joint subluxation (the appendage coming out of its functional socket.).  EDS patients with MPS need guarded specific local stretching of myofascial trigger points with pressure or needle therapy.

Resource other than weblinks provided:

D. F. Barron, B. A. Cohen, M. T. Geraghty, R. Violand, and P. C. Rowe, “Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls,” Journal of Pediatrics 141, no. 3 (2002): 421–25.

Castori M, Celletti C, Camerota F, Grammatico P. Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome. Clin Exp Rheumatol. 2011 May-Jun;29(3):597-8. Epub 2011 Jun 30.

Fernandez-de-las-Penas C. 2009. Interaction between trigger points and joint hypomobility: a clinical perspective. J Man Manip Ther. 17(2):74-77. [Joint hypermobility lends to development of MTPs, and MTPs can pull the displaced the joint as well.]

Hermanns-Lê T, Piérard GE, Angenot P. [Fibromyalgia: an unrecognized Ehlers-Danlos syndrome hypermobile type?] Rev Med Liege. 2013 Jan;68(1):22-4.

Ting TV, Hashkes PJ, Schikler K et al. 2012. Pediatr Rheumatol Online J. 10(1):16.
The role of benign joint hypermobility in the pain experience in Juvenile Fibromyalgia: an observational study.  “Juvenile Fibromyalgia (JFM) is characterized by chronic widespread musculoskeletal pain and approximately 40% of children and adolescents with JFM also suffer from benign joint hypermobility (HM)....”

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Read more about the books:

Broken Body Wounded Spirit, Balancing the See-Saw of Chronic PainSpring Devotions 

Broken Body Wounded Spirit, Balancing the See-Saw of Chronic Pain
Winter Devotions

Broken Body Wounded Spirit, Balancing the See-Saw of Chronic Pain, Summer Devotions (here).

Broken Body Wounded Spirit, Balancing the See-Saw of Chronic Pain, Fall Devotions (here).

Integrative Therapies for Fibromyalgia, Chronic Fatigue Syndrome and Myofascial Pain: The Mind-Body Connection (here).

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