Approach
The evidence base underpinning various treatment options is patchy. Many recommendations are based on expert opinion. Therapies are usually tailored to individual needs. Multidisciplinary input may be necessary.
General recommendations
Asymptomatic patients do not require any specific treatment. However, all patients should be advised to avoid contact sports because of the risk of injury to soft tissue and bone. Fitness should be encouraged because this can minimise risk of injury. Certain occupations are physically demanding and are best avoided, such as nursing, professional dancing, and heavy manual labour.
Genetic counselling/education
All patients (and/or parents) should be provided with detailed information regarding the disorder. Inheritance patterns should be explained and at-risk family members identified. The outcome and natural history of the particular EDS subtype should be discussed.
It is not necessary to advise patients with hypermobile EDS (hEDS) to avoid having children, but parents should be encouraged to be alert to childhood and adolescent symptoms.
Patients and their families should be provided with information on available support groups and other such resources. Ehlers-Danlos Support Group (UK) Opens in new window Ehlers-Danlos Society Opens in new window
Pain management
A standard approach to pain management applies.
There have been no randomised controlled trials of pain management in EDS, and clinicians tend to follow guidance from the management of fibromyalgia. The causes of pain in EDS are multifactorial and hence treatment options vary.[36]
Non-steroidal anti-inflammatory drugs (NSAIDs), skeletal muscle relaxants, and opioid analgesics play a role in treating joint, muscle, and/or spine pain. Other options include drugs used for neuropathic pain, serotonin-noradrenaline (serotonin-norepinephrine) reuptake inhibitors, and tricyclic antidepressants.
Corticosteroid injections and/or local anaesthetic agents may be considered when oral analgesics do not adequately relieve pain (e.g., trigger-point injections, bursa injections, intra-articular injections).[18] Local anaesthetic agents, in a higher than average dose, provide relief despite apparent resistance.
Nerve-root blocks and spinal-cord stimulators may be useful adjuncts in select cases of intractable chronic pain.
Chronic unremitting pain
Chronic and unremitting pain with profound physical de-conditioning may require a multidisciplinary pain management programme involving cognitive behavioural therapy (CBT). Furthermore, with chronic pain may come reactive depression, anxiety, and/or phobic states requiring short-term antidepressant and/or anxiolytic therapy to support or facilitate other therapeutic interventions. One meta-analysis of 16 publications showed effectiveness of combined physiotherapy and cognitive therapy in reducing pain in individuals with joint hypermobility.[37]
The World Health Organization guidelines on the management of chronic pain in children recommend the use of physiotherapy (alone or in combination with other therapies), CBT and related interventions, and pharmacological therapy. Treatment should be interdisciplinary and multimodal, and tailored to the individual child's diagnosis, abilities, and needs.[38]
Physiotherapy and occupational therapy
For patients with pain and joint instability, physiotherapy and occupational therapy is usually necessary. The principles of therapy include:
Restoring a normal range of motion for that particular patient, even if it is hypermobile
Restoring efficient and effective movement patterns throughout full range of motion, including the hypermobile range. This involves correcting and preventing movement dysfunction and regaining joint stability
Educating, reassuring, advising, and problem-solving with the patient
Improving general fitness to avoid de-conditioning, achieved through muscle toning to help stabilise loose joints, and avoiding high-resistance strengthening-type exercises.
Each patient requires a detailed assessment and individualised programme. Techniques may include neural biofeedback, and therapies often involve the principles of Pilates, the Alexander technique, and tai chi.[39] Myofascial release (a form of soft-tissue therapy) may be performed to reduce muscle spasm.
Splints and/or orthotics
While physiotherapy encourages strengthening and endurance with a goal of avoiding supports and splints (the best splint is the patient's own musculature), supports may inevitably be required to stabilise non-responding joints or to support one region in order that joints above and below may be strengthened without undue stress (e.g., strapping the knee to focus on re-aligning and stabilising the hip and ankle). In addition, orthotics are valuable in re-aligning the foot and reducing pain.
Joint reduction and immobilisation
For cases of joint dislocation, joint reduction is usually indicated. This often involves closed reduction as soon as possible to decrease potential complications, including soft-tissue injury, articular surface injury, and neurovascular compromise. Reduction usually requires sedation and analgesia. A period of immobilisation should be followed by active motion exercises and isometric strengthening exercises.
Specialist referral and/or specific therapy
For patients with autonomic dysfunction and weakness of supporting structures (e.g., uterine or rectal prolapse; myopia; abdominal wall, inguinal, or para-umbilical hernia; mitral valve prolapse) referral to specialist cardiac, autonomic neurology, gastroenterology, ophthalmological, gynaecological, and/or surgical services should be made if there are specific concerns.
Gastrointestinal (GI) disorders are treated as for non-EDS patients (e.g., antacids for gastritis or GORD; promotility agents for gastroparesis; fibre, avoiding certain food products, and smooth muscle relaxants for irritable bowel syndrome). For abnormal gut flora, antibiotic therapy can be considered. Dietary modification is increasingly being used as a therapeutic approach for disorders of gut-brain interaction.[40][41][42] Medical management and nutritional support should be offered in the context of a multidisciplinary care model.
For constipation, docusate sodium or glycerin suppositories are an option.
For slow transit, prokinetic agents (such as erythromycin and domperidone) enhance GI motility, especially for those patients with reflux/dysphagia. Due to a review that found domperidone was associated with a small increased risk of potentially life-threatening cardiac effects, the risks and benefits should be weighed carefully before using the drug for this off-label indication.[43] Domperidone should be used at the lowest effective dose for the shortest possible duration and the maximum treatment duration should not usually exceed 1 week. A probiotic (such as VSL3) may also be considered for slow-transit issues.
A low-FODMAP diet may be considered for those suffering from bloating. This refers to a diet low in fermentable oligo-, di-, and mono-saccharides, and polyols. These are short-chain carbohydrates that are osmotically active, causing diarrhoea after ingestion by attracting water from the intestinal vessels into the intestinal lumen. Fermentation by intestinal bacteria then yields large volumes of gases (hydrogen or carbon dioxide) leading to bloating.
Experimental treatments
Prolotherapy, also called regenerative injection therapy, is a non-surgical complementary medicine treatment for ligament and tendon reconstruction. It has been used in the treatment of isolated joint instabilities.[44][45] [46]
Some providers recommend prolotherapy to improve joint laxity in patients with EDS. While it may help to improve joint stability, its use continues to be controversial in the management of EDS. More studies are needed to demonstrate the exact utility of prolotherapy in the treatment of musculoskeletal symptoms associated with EDS.[46]
Vitamin C supplementation is an experimental intervention that may slightly improve collagen cross-linking and possibly increase skin and/or joint stability. However, this is considered dubious in the absence of vitamin C deficiency and is, therefore, not standard practice.
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