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There is no known cure for Ehlers–Danlos syndrome. Treatment is palliative. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help with stabilizing the joints and prevent injury. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances, although it is advised that individuals not become entirely dependent on them until there are no other options for mobility. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe casting to stabilize joints. Physicians may refer a patient to an orthotist for orthotic treatment (bracing). Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints.
There are different types of physiotherapy. Aquatic therapy promotes muscular development and coordination. With manual therapy, the joint will be gently mobilized within the range of motion and/or manipulations.
If conservative therapy is not helpful, surgical repair of joints may be necessary. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C). Special precautions are often taken by medical care workers because of the sheer amount of complications that tend to arise in EDS patients. In Vascular EDS, signs of chest or abdominal pain are to be considered trauma situations.
In general, medical intervention is limited to symptomatic therapy. Before pregnancy, patients with EDS should have genetic counseling and familiarize themselves with the risks to their own bodies that pregnancy poses. Children with EDS should be provided with information about the disorder so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Patients may find it hard to cope with the drawbacks of the disease. In this case, emotional support and behavioral and psychological therapy can be useful. Support groups can be immensely helpful for patients dealing with major lifestyle changes and poor health. Family members, teachers, and friends should be informed about EDS so they can accept and assist the child.
The instability of joints, leading to (sub)luxations and joint pain, often require surgical intervention in patients with Ehlers–Danlos syndrome. Instability of almost all joints can happen but appear most often in the lower and upper extremities, with the wrist, fingers, shoulder, knee, hip, and ankle being most common.
Common surgical procedures are joint debridement, tendon replacements, capsulorraphy, and arthroplasty. Studies have shown that after surgery, degree of stabilization, pain reduction, and patient satisfaction can improve, but surgery does not guarantee an optimal result: Patients and surgeons report being dissatisfied with the results. Consensus is that conservative treatment is more effective than surgery, particularly since patients have extra risks of surgical complications due to the disease. Three basic surgical problems arise due to EDS: the strength of the tissues is decreased, which makes the tissue less suitable for surgery; the fragility of the blood vessels can cause problems during surgery; and wound healing is often delayed or incomplete. If considering surgical intervention, it would be prudent to seek care from a surgeon with extensive knowledge and experience in treating patients with EDS and joint hypermobility issues.
Studies have shown that local anesthetics, arterial catheters and central venous catheters cause a higher risk in haematoma formation in patients with Ehlers–Danlos syndrome. Ehlers–Danlos syndrome patients also show a resistance to local anaesthetics. Resistance to Xylocaine and Bupivacaine is not uncommon, and Carbocaine tends to work better in EDS patents. Special recommendations for anesthesia in EDS patients are prepared by orphananesthesia and deal with all aspects of anesthesia for people with EDS. Detailed recommendations for anesthesia and perioperative care of patients with EDS should be used to improve patient safety.
Surgery with Ehlers–Danlos patients requires careful tissue handling and a longer immobilization afterward.
Most reported cases of DEH in the literature have been treated surgically, with excision of the mass, as well as by the correction
of any deformity, while preserving the integrity of the affected joint as much as possible.
Treatment includes anti-inflammatory medications and immobilization of the neck in addition to treatment of the offending infectious cause (if any) with appropriate antibiotics. Early treatment is crucial to prevent long-term sequelae. Surgical fusion may be required for residual instability of the joint.
No treatment has been found to be routinely effective. NSAIDs and COX-2 inhibitors are not generally helpful other than for general pain relief. They do not seem to help reduce effusions or prevent their occurrence. Low-dose colchicine (and some other ‘anti-rheumatic’ therapies e.g. hydroxychloroquine) have been used with some success. (Use of methotrexate and intramuscular gold have not been reported in the literature). More aggressive treatments such as synovectomy, achieved using intra-articular agents (chemical or radioactive) can provide good results, with efficacy reported for at least 1 year.
Reducing acute joint swelling:
Arthrocentesis (or drainage of joint) may be useful to relieve joint swelling and improve range of motion. Local steroid injections can also reduce fluid accumulation short-term, but do not prevent onset of episodes. These treatments provide temporary relief only. Bed rest, ice packs splints and exercise are ineffective.
A single case report of a patient with treatment-refractory IH describes the use of anakinra, an interleukin 1 receptor antagonist. At the first sign of any attack, a single 100 mg dose was given. With this dosing at onset of attacks, each episode of effusion was successfully terminated.
Reducing frequency and severity of IH episodes:
Case reports indicate some success using long-term, low-dose colchicine (e.g. 0.5 mg to 1 mg daily). A recent single case report has shown hydroxychloroquine (300 mg daily) to be effective too.
Small-sized clinical trials have shown positive results with (1) chemical and (2) radioactive synovectomy. (1) Setti et al. treated 53 patients with rifampicin RV (600 mg intra-articular injections weekly for approximately 6 weeks) with good results at 1 year follow-up. (2) Top and Cross used single doses of intra-articular radioactive gold in 18 patients with persistent effusions of mixed causes including 3 with IH. All 3 patients with IH responded well to treatment at one-year follow-up.
Treatment of KBD is palliative. Surgical corrections have been made with success by Chinese and Russian orthopedists. By the end of 1992, Médecins Sans Frontières—Belgium started a physical therapy programme aiming at alleviating the symptoms of KBD patients with advanced joint impairment and pain (mainly adults), in Nyemo county, Lhasa prefecture. Physical therapy had significant effects on joint mobility and joint pain in KBD patients. Later on (1994–1996), the programme has been extended to several other counties and prefectures in Tibet.
Non-surgical interventions include three elements: weight control, exercise control, and medication. Canine massage may alleviate discomfort and help move lymph and nutrients through the system. Weight control is often "the single most important thing that we can do to help a dog with arthritis", and consequentially "reducing the dog's weight is enough to control all of the symptoms of arthritis in many dogs". Reasonable exercise stimulates cartilage growth and reduces degeneration (though excessive exercise can do harm too), and also regular long walks in early or mild dysplasia can help prevent loss of muscle mass to the hips. Medication can reduce pain and discomfort, and also reduce damaging inflammation.
Non-surgical intervention is usually via a suitable non-steroidal anti-inflammatory drug (NSAID) which doubles as an anti-inflammatory and painkiller. Typical NSAIDs used for hip dysplasia include carprofen and meloxicam (often sold as Rimadyl and Metacam respectively), both used to treat arthritis resulting from dysplasia, although other NSAIDs such as tepoxalin (Zubrin) and prednoleucotropin ("PLT", a combination of cinchophen and prednisolone) are sometimes tried. NSAIDs vary dramatically between species as to effect: a safe NSAID in one species may be unsafe in another. It is important to follow veterinary advice.
A glucosamine-based nutritional supplement may give the body additional raw materials used in joint repair. Glucosamine can take 3–4 weeks to start showing its effects, so the trial period for medication is usually at least 3–5 weeks. In vitro, glucosamine has been shown to have negative effects on cartilage cells.
It is also common to try multiple anti-inflammatories over a further 4–6 week period, if necessary, since an animal will often respond to one type but fail to respond to another. If one anti-inflammatory does not work, a vet will often try one or two other brands for 2–3 weeks each, also in conjunction with ongoing glucosamine, before concluding that the condition does not seem responsive to medication.
Carprofen, and other anti-inflammatories in general, whilst very safe for most animals, can sometimes cause problems for some animals, and (in a few rare cases) sudden death through liver toxicity. This is most commonly discussed with carprofen but may be equally relevant with other anti-inflammatories. As a result, it is often recommended to perform monthly (or at least, twice-annually) blood tests to confirm that the animal is not reacting adversely to the medications. Such side effects are rare but worth being aware of, especially if long-term use is anticipated.
This regimen can usually be maintained for the long term, as long as it is effective in keeping the symptoms of dysplasia at bay.
Some attempts have been made to treat the pain caused by arthritic changes through the use of "laser therapy", in particular "class IV laser therapy". Well-controlled clinical trials are unfortunately lacking, and much of the evidence for these procedures remains anecdotal.
There is no complete cure, although there are many options to alleviate the clinical signs. The aim of treatment is to enhance quality of life. Crucially, this is an inherited, degenerative condition and so will change during the life of an animal, so any treatment is subject to regular review or re-assessment if the symptoms appear to get worse or anything significantly changes.
If the problem is relatively mild, then sometimes all that is needed to bring the symptoms under control are suitable medications to help the body deal better with inflammation, pain and joint wear. In many cases this is all that is needed for a long time.
If the problem cannot be controlled with medications, then often surgery is considered. There are traditionally two types of surgery - those which reshape the joint to reduce pain or help movement, and hip replacement which completely replaces the damaged hip with an artificial joint, similar to human hip replacements.
Radiation therapy has been used mostly for early stage disease, but is unproven. Evidence to support its use as of 2017, however, is poor; efforts to gather evidence are complicated due to a poor understanding of the how the condition develops over time. It has only been looked at in early disease.
Several alternate therapies such as vitamin E treatment, have been studied, although without control groups. Most doctors do not value those treatments. None of these treatments stops or cures the condition permanently.
Laser treatment (using red and infrared at low power) was informally discussed in 2013 at an International Dupuytren Society forum, as of which time little or no formal evaluation of the techniques had been completed.
Only anecdotal evidence supports other compounds such as vitamin E.
The goals of treatment are to decrease pain, reduce the loss of hip motion, and prevent or minimize permanent femoral head deformity so that the risk of developing a severe degenerative arthritis as adult can be reduced. Assessment by a pediatric orthopaedic surgeon is recommended to evaluate risks and treatment options. Younger children have a better prognosis than older children.
Treatment has historically centered on removing mechanical pressure from the joint until the disease has run its course. Options include traction (to separate the femur from the pelvis and reduce wear), braces (often for several months, with an average of 18 months) to restore range of motion, physiotherapy, and surgical intervention when necessary because of permanent joint damage. To maintain activities of daily living, custom orthotics may be used. Overnight traction may be used in lieu of walking devices or in combination. These devices internally rotate the femoral head and abduct the leg(s) at 45°. Orthoses can start as proximal as the lumbar spine, and extend the length of the limbs to the floor. Most functional bracing is achieved using a waist belt and thigh cuffs derived from the Scottish-Rite orthosis. These devices are typically prescribed by a physician and implemented by an orthotist. Clinical results of the Scottish Rite orthosis have not been good according to some studies, and its use has gone out of favor. Many children, especially those with the onset of the disease before age 6, need no intervention at all and are simply asked to refrain from contact sports or games which impact the hip. For older children (onset of Perthes after age 6), the best treatment option remains unclear. Current treatment options for older children over age 8 include prolonged periods without weight bearing, osteotomy (femoral, pelvic, or shelf), and the hip distraction method using an external fixator which relieves the hip from carrying the body's weight. This allows room for the top of the femur to regrow. The Perthes Association has a "library" of equipment which can be borrowed to assist with keeping life as normal as possible, newsletters, a helpline, and events for the families to help children and parents to feel less isolated.
While running and high-impact sports are not recommended during treatment for Perthes disease, children can remain active through a variety of other activities that limit mechanical stress on the hip joint. Swimming is highly recommended, as it allows exercise of the hip muscles with full range of motion while reducing the stress to a minimum. Cycling is another good option as it also keeps stress to a minimum. Physiotherapy generally involves a series of daily exercises, with weekly meetings with a physiotherapist to monitor progress. These exercises focus on improving and maintaining a full range of motion of the femur within the hip socket. Performing these exercises during the healing process is essential to ensure that the femur and hip socket have a perfectly smooth interface. This will minimize the long-term effects of the disease. Use of bisphosphonate such as zoledronate or ibandronate is currently being investigated, but definite recommendations are not yet available.
Perthes disease is self-limiting, but if the head of femur is left deformed, long-term problems can occur. Treatment is aimed at minimizing damage while the disease runs its course, not at 'curing' the disease. It is recommended not to use steroids or alcohol as these reduce oxygen in the blood which is needed in the joint. As sufferers age, problems in the knee and back can arise secondary to abnormal posture and stride adopted to protect the affected joint. The condition is also linked to arthritis of the hip, though this appears not to be an inevitable consequence. Hip replacements are relatively common as the already damaged hip suffers routine wear; this varies by individual, but generally is required any time after age 50.
A subsistence allowance is provided to the patients by the Government of Karnataka from the fund reserved for the physically challenged. Assistance has also been provided to construct houses for them. A special treatment unit has been set up in the Government Hospital at Sagar with an ambulance provided to shift the affected patients to the hospital.
Treatment generally includes the following:
- Sometimes pharmacologic therapy for initial disease treatment
- Physical therapy
- Occupational therapy
- Use of appropriate assistive devices such as orthoses
- Surgical treatment
There is moderate quality evidence that manual therapy and therapeutic exercise improves pain in patients with thumb CMC
OA at both short- and intermediate-term follow-up, and low to moderate quality evidence that magneto therapy improves pain
and function at short-term follow-up. There is moderate evidence that orthoses (splints) can improve hand function at long-term follow-up. There is very low to low-quality evidence that other conservative interventions provide no significant improvement in pain and in function at short- and long-term follow-up. Some of the commonly performed conservative interventions performed in therapy have evidence to support their use to improve hand function and decrease hand pain in patients with CMC OA.
Treatment is frequently by means of removal of the loose bodies and of a partial or full synovectomy (removal of the synovium)
Full synovectomy is a moderately major operation and involves completely exposing the joint and removing the affected tissue. Partial synovectomy is normally done arthroscopically. Synovectomies are normally carried out by shaving the lining of the knee but there are other ways of achieving this by either freezing the synovium or by the use of radiation treatment.
The need for further procedures is greater than 25% although normally the frequency of the required removal of loose bodies is reduced by the previous synovectomy. There have been documented cases of malignant transformation however this is rare.
Whilst the condition can be described as a ‘benign growth’ it seldom affects more than one joint, and does not usually affect surrounding tissue.
Because any medication that could reduce the inflammation of CPPD bears a risk of causing organ damage, treatment is not advised if the condition is not causing pain.
For acute pseudogout, treatments include intra-articular corticosteroid injection, systemic corticosteroids, non-steroidal anti-inflammatory drugs (NSAIDs), or, on occasion, high-dose colchicine. In general, NSAIDs are administered in low doses to help prevent CPPD. However, if an acute attack is already occurring, higher doses are administered. If nothing else works, hydroxychloroquine or methotrexate may provide relief.
Research into surgical removal of calcifications is underway, however this still remains an experimental procedure.
Treatment consists of rest, non-weightbearing and painkillers when needed. A small study showed that the nonsteroidal anti-inflammatory drug ibuprofen could shorten the disease course (from 4.5 to 2 days) and provide pain control with minimal side effects (mainly gastrointestinal disturbances). If fever occurs or the symptoms persist, other diagnoses need to be considered.
Handigodu Syndrome is a rare and painful osteoarthritic disorder endemic to the Malnad region in the state of Karnataka, India. Also known as "Handigodu Joint Disease", it derives its name from the village of "Handigodu" in the Sagara taluk of the Shimoga district of Karnataka where it was first noticed. This disease currently has no cure. Scientifically it is termed as "Endemic Familial Arthritis of Malnad". Since the day it was discovered, it has claimed over 1000 lives and has left many people crippled. Apart from Sagara taluk, the disease has also been reported from the Koppa, Narasimharajapura and Sringeri taluks of Chikkamagaluru district.
Conservative therapies include NSAIDs, pain medication, weight management and exercise restriction. The problems with these therapies is that they do not work well, especially long-term.
In many cases, conservative treatment consisting of physical therapy and new shoes with soft, spacious toe boxes is enough to resolve the condition, while in more severe or longstanding cases Hammertoe Surgery may be necessary to correct the deformity. The patient's doctor may also prescribe some toe exercises that can be done at home to stretch and strengthen the muscles. For example, the individual can gently stretch the toes manually, or use the toes to pick things up off the floor. While watching television or reading, one can put a towel flat under the feet and use the toes to crumple it. The doctor can also prescribe a brace that pushes down on the toes to force them to stretch out their muscles.
Prevention of Kashin–Beck disease has a long history. Intervention strategies were mostly based on one of the three major theories of its cause.
Selenium supplementation, with or without additional antioxidant therapy (vitamin E and vitamin C) has been reported to be successful, but in other studies no significant decrease could be shown compared to a control group. Major drawbacks of selenium supplementation are logistic difficulties (daily or weekly intake, drug supply), potential toxicity (in case of less controlled supplementation strategies), associated iodine deficiency (that should be corrected before selenium supplementation to prevent further deterioration of thyroid status) and low compliance. The latter was certainly the case in Tibet, where a selenium supplementation has been implemented from 1987 to 1994 in areas of high endemicity.
With the mycotoxin theory in mind, backing of grains before storage was proposed in Guangxi province, but results are not reported in international literature. Changing from grain source has been reported to be effective in Heilongjiang province and North Korea.
With respect to the role of drinking water, changing of water sources to deep well water has been reported to decrease the X-ray metaphyseal detection rate in different settings.
In general, the effect of preventive measures however remains controversial, due to methodological problems (no randomised controlled trials), lack of documentation or, as discussed above, due to inconsistency of results.
Manual therapy is another commonly used treatment modality in which the joints or muscles of patients are manipulated with the intention of restoring the range of motion of the joint or increasing the flexibility of the muscles around the joint. Intervention techniques:
- Kaltenborn Mobilization Technique
- Maitland's Mobilization
- Neurodynamic Techniques
Once the process is recognized, it should be treated via the VIPs — vascular management, infection management and prevention, and pressure relief. Aggressively pursuing these three strategies will progress the healing trajectory of the wound. Pressure relief (off-loading) and immobilization with total contact casting (TCC) are critical to helping ward off further joint destruction.
TCC involves encasing the patient’s complete foot, including toes, and the lower leg in a specialist cast that redistributes weight and pressure in the lower leg and foot during everyday movements. This redistributes pressure from the foot into the leg, which is more able to bear weight, to protect the wound, letting it regenerate tissue and heal. TCC also keeps the ankle from rotating during walking, which prevents shearing and twisting forces that can further damage the wound. TCC aids maintenance of quality of life by helping patients to remain mobile.
There are two scenarios in which the use of TCC is appropriate for managing neuropathic arthropathy (Charcot foot), according to the American Orthopaedic Foot and Ankle Society. First, during the initial treatment, when the breakdown is occurring, and the foot is exhibiting edema and erythema; the patient should not bear weight on the foot, and TCC can be used to control and support the foot. Second, when the foot has become deformed and ulceration has occurred; TCC can be used to stabilize and support the foot, and to help move the wound toward healing.
Walking braces controlled by pneumatics are also used. Surgical correction of a joint is rarely successful in the long-term in these patients. However, off-loading alone does not translate to optimal outcomes without appropriate management of vascular disease and/or infection. Duration and aggressiveness of offloading (non-weight-bearing vs. weight-bearing, non-removable vs. removable device) should be guided by clinical assessment of healing of neuropathic arthropathy based on edema, erythema, and skin temperature changes. It can take 6–9 months for the edema and erythema of the affected joint to recede.
Medication is the main method of managing pain in TMD, mostly because there is little if any evidence of the effectiveness of surgical or dental interventions. Many drugs have been used to treat TMD pain, such as analgesics (pain killers), benzodiazepines (e.g. clonazepam, prazepam, diazepam), anticonvulsants (e.g. gabapentin), muscle relaxants (e.g. cyclobenzaprine), and others. Analgesics that have been studied in TMD include non-steroidal anti-inflammatory drugs (e.g. piroxicam, diclofenac, naproxen) and cyclo-oxygenase-2 inhibitors (e.g. celecoxib). Topical methyl salicylate and topical capsaicin have also been used. Other drugs that have been described for use in TMD include glucosamine hydrochloride/chondroitin sulphate and propranolol. Despite many randomized control trials being conducted on these commonly used medications for TMD a systematic review carried out in 2010 concluded that there was insufficient evidence to support or not to support the use of these drugs in TMD. Low-doses of anti-muscarinic tricyclic antidepressants such as amitriptyline, or nortriptyline have also been described. In a subset of people with TMD who are not helped by either noninvasive and invasive treatments, long term use of opiate analgesics has been suggested, although these drugs carry a risk of drug dependence and other side effects. Examples include morphine, fentanyl, oxycodone, tramadol, hydrocodone, and methadone.
Botulinum toxin solution ("Botox") is sometimes used to treat TMD. Injection of botox into the lateral pterygoid muscle has been investigated in multiple randomized control trials, and there is evidence that it is of benefit in TMD. It is theorized that spasm of lateral pterygoid causes anterior disc displacement. Botulinum toxin causes temporary muscular paralysis by inhibiting acetylcholine release at the neuromuscular junction. The effects usually last for a period of months before they wear off. Complications include the creation of a "fixed" expression due to diffusion of the solution and subsequent involvement of the muscles of facial expression, which lasts until the effects of the botox wear off. Injections of local anesthetic, sometimes combined with steroids, into the muscles (e.g. the temoralis muscle or its tendon) are also sometimes used. Local anesthetics may provide temporary pain relief, and steroids inhibit pro-inflammatory cytokines. Steroids and other medications are sometimes injected directly into the joint (See Intra-articular injections).
Adult-onset Still's disease is treated with anti-inflammatory drugs. Steroids such as prednisone are used to treat severe symptoms of Still's. Other commonly used medications include hydroxychloroquine, penicillamine, azathioprine, methotrexate, etanercept, anakinra, cyclophosphamide, adalimumab, rituximab, and infliximab.
Newer drugs target interleukin-1 (IL-1), particularly IL-1β. A randomized, multicenter trial reported better outcomes in a group of 12 patients treated with anakinra than in a group of 10 patients taking other disease-modifying antirheumatic drugs. Other anti-IL1β drugs are being developed, including canakinumab and rilonacept.
The condition "juvenile-onset Still's disease" is now usually grouped under juvenile rheumatoid arthritis. However, there is some evidence that the two conditions are closely related.