Ehlers–Danlos Syndrome

Individuals with Ehlers-Danlos syndromes (EDS) have a genetic defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein which acts as a ‘glue’ in the body, adding strength and elasticity to connective tissue (http://www.ehlersdanlosnetwork.org).

 

Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. There are six major types of EDS, which are classified according to their manifestations of signs and symptoms:

 

Classical Type: characterised by highly elastic, soft, and doughy skin, unusual scarring and loose joints.

 

Hypermobility Type: characterised by loose joints and chronic joint pain.

 

Vascular Type: characterised by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. This is the most serious form of EDS.

 

Kyphoscoliosis Type: characterized by generalised joint laxity and severe muscle hypotonia (weak muscle tone) at birth. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals present with a progressive form of scoliosis at birth. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade.

 

Arthrochalasia Type: characterised by congenital hip dislocation which is present in all biochemically proven individuals with this type of EDS. Severe generalised joint hypermobility with recurrent subluxations are also seen.

 

Dermatosparaxis Type: 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. Large hernias (umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.

 

Tenascin-X Deficient Type: characterised 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 EDS. Inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family).

 

In individuals with EDS, wound healing is generally delayed and surgical repair may be difficult because of friable tissues. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory, and particularly the cardiovascular systems. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries (Gupta and Kumar, 2014).

 

Major Clinical Problems Related to Wound Healing in Patients with EDS and Possible Solutions– Gupta and Kumar, 2014.

Problems of Patients with EDS

Wound Healing Problems Expected in Patients with EDS Possible Solution(s)

Evidences in the Literature

Defective collagen Delay in healing and weak scar. Immobilization and rest to healing tissue for prolonged period, particularly during initial stages. More chances of recurrent hernia in patients with EDS.
Tissue friability Reduced ability to resist mechanical forces during handling.

Holding of sutures.

Gentle handling of tissues during surgery.

Support/immobilization whenever possible.

Studies by Malfait and De Paepe.
Skin Hyperextensibility Frequent trauma to healing tissues due to skin mobility and stretching. Delay first dressing.

Change and subsequent less frequent dressing change.

Use of collagen from external source.

Immobilize part during healing.

Use of negative Pressure dressing.

Use of special Bioengineered materials.

Faster healing in case reported by Kumar et al: probably because graft patient is immobilized for longer period and less hindrance to healing tissues occurred.

 

In healthy individuals, heavy resistance training can improve both skeletal muscle mass and function as well as increase the stiffness of tendon structures. Conversely, immobilization or inactivity is associated with a marked decline in skeletal muscle mass, muscle strength and tendon stiffness in both young and elderly individuals.

 

Moller et al. (2014) investigated the effects of resistance training on patients with Classical Type EDS. Subjects underwent strength training 3 times a week for 4 months and were tested before and after intervention in regards to muscle strength, tendon mechanical properties, and muscle function. They concluded that whilst this study was only a small pilot study, heavy resistance training was both feasible and effective in Classic Type EDS patients, and the results indicated that both tendon and skeletal muscle properties can be improved also in this patient group when they are subjected to resistance training.

 

More recently, Camerota et al. (2015) have investigated the biomechanical alterations induced by neuromuscular taping (NMT) during walking, in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS-HT). The taping was applied constantly and changed every 3 days by the same physiotherapist for a total of five applications. Gait analysis was conducted at the time of enrolment, before the application of NMT, and was repeated at the end of the treatment (2 weeks after the first application of NMT). At the end of treatment following the NMT application, left step length showed improvements in cadence and velocity, the left knee showed a reduction in its flexed position at initial contact, and the right ankle joint improved its position at initial contact and in the swing phase. Improvements were also found in kinetics, in terms of the ankle moment and power.

 

The authors expressed that this case report could be considered an observational pilot study with the prospect to inform clinical practice. They also emphasise that further randomised controlled investigations, with higher subject numbers are certainly needed to assess effectively the effects of NMT intervention on movement and on the generalised debilitating symptoms associated with the pathology.

 

They concluded that NMT is a non-invasive and cost-effective process which may play a role as a sensitive input that is integrated by the central nervous system and used for assisting motor program execution process known as sensorimotor integration. In the absence of further studies however, it is not known whether these improvements are maintained over time.

 

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Ref: M Møller, M Kjær, RB Svensson, JL Andersen, SP Magnusson, RH Nielsen. Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome. Muscles, Ligaments and Tendons Journal 2014; 4 (3): 315-323.
A Gupta and P Kumar. Possible Simple Measures for Complex Wound Healing Problems in Ehlers-Danlos Syndrome. Plast Reconstr Surg Glob Open 2014;2:e241.
F Camerota, M Galli, V Cimolin, C Celletti, A Ancillao, D Blow, G Albertini. The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type. Ther Adv Musculoskel Dis 2015, Vol. 7(1) 3–10.

http://www.ednf.org/whateds

http://www.ehlersdanlosnetwork.org/typesofehlersdanlos.html

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The comments above are the implicit advice of Workplace Physiotherapy. The views expressed are based on current evidence-based research and accepted best practice approaches. Unless otherwise stated, these comments are not the view of WorkCover NSW or any other professional body. No reproduction or forwarding of this advice is permitted without the consent of the author.

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