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 minimize risk of injury. Certain occupations are physically demanding and are best avoided, such as nursing, professional dancing, and heavy manual labor.

Genetic counseling/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 Society Opens in new window

Pain management

A standard approach to pain management applies.

There have been no randomized 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.[37]

Nonsteroidal 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-norepinephrine reuptake inhibitors, and tricyclic antidepressants.

Corticosteroid injections and/or local anesthetic agents may be considered when oral analgesics do not adequately relieve pain (e.g., trigger-point injections, bursa injections, intra-articular injections).[18] Local anesthetic 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 deconditioning may require a multidisciplinary pain management program involving cognitive behavioral 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 physical and cognitive therapies in reducing pain in individuals with joint hypermobility.[38]

The World Health Organization guidelines on the management of chronic pain in children recommend the use of physical therapy (alone or in combination with other therapies), CBT and related interventions, and pharmacologic therapy. Treatment should be interdisciplinary and multimodal, and tailored to the individual child's diagnosis, abilities, and needs.[39]​

Physical and occupational therapy

For patients with pain and joint instability, physical 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 deconditioning, achieved through muscle toning to help stabilize loose joints, and avoiding high-resistance strengthening-type exercises.

Each patient requires a detailed assessment and individualized program. Techniques may include neural biofeedback, and therapies often involve the principles of Pilates, the Alexander technique, and tai chi.[40] Myofascial release (a form of soft-tissue therapy) may be performed to reduce muscle spasm.

Splints and/or orthotics

While physical therapy 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 stabilize nonresponding 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 realigning and stabilizing the hip and ankle). In addition, orthotics are valuable in realigning the foot and reducing pain.

Joint reduction and immobilization

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 immobilization 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 paraumbilical hernia; mitral valve prolapse) referral to specialist cardiac, autonomic neurology, gastroenterology, ophthalmologic, gynecologic, 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 GERD; promotility agents for gastroparesis; fiber, 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.[41][42][43]​​ 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. Domperidone is not currently available in the US. 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 diarrhea 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 nonsurgical 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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