Pain in the Joint Hypermobility Syndrome (JHS)

 

(Written in language for patients)

 

 

Most physicians do not know that the Joint Hypermobility Syndrome (formerly called Ehlers-Danlos Syndrome (EDS) type III) can cause severe recurrent pain and occasionally incapacity. Rheumatologists need to know that JHS is the principal cause of pain in their clinics. After seen more than a 1,000 JHS patients I do not have any doubt that this is true.

 

The joints in JHS are lax, which makes them unstable and vulnerable to episodic traumatic inflammation, even with minimal trauma. The excessive motion of the joints produce abnormal stretching of the articular capsule, which results in pain. It is for this reason that patients with JHS have pain. Since these patients have Autosomal Dominant Inheritance (50% of the siblings will have it), the pain can appear in infancy, adolescence or adulthood. It can be triggered by trauma, a change in life style, when starting a new sport or exercise, other disease or even because of emotional problems. These do not cause it , but they can trigger  or aggravate it. Due to the increased laxitud of the articular capsule, it is possible that the person may occasionally have the sensation that the joint is going to give way, or get out of place. If the laxitud is extreme, the patient can suffer a subluxation of the joint , like it happens at times with the shoulder, elbow or knees. There are people that can subluxe their joint voluntarily, specially in the Classic Ehlers-Danlos (CEDS).  This type of EDS, formerly called EDS type I-II is characterized by extreme joint mobility and recurrent subluxations with minor injury or voluntarily.  Especially the Classic Ehlers-Danlos Syndrome (CSED) formerly called SED type I – II.

 

It is possible for a JHS patient to have only one, or a few lax joints, that can be painful. In such cases usually neither the patient nor the physician know that he has joint hypermobility.

 

Exercise or sports that require sudden, gyratory movements of the joints, like ankles in tennis or knees in football or basketball, can produce sprains and subluxations. Swimming that in general is a good exercise for JHS, can at times produce shoulder dislocation, especially when practicing butterfly style swimming. In volleyball and football, finger sprains and tendinitis or pain in the wrists are common.

 

Adults doing sports competition or children whose parents force them to compete, in spite of having problems with the joints, can end with more pain and complications, such as, tendinitis, sprains or subluxations.

 

Since hypermobility is a hereditary alteration of the collagen fibers, not only the joints are affected, but all tissues are fragile due to the alteration of the collagen, that is a protein that constitute the matrix of all tissues. I tell my patients that collagen is like “ the iron in constructions”, that if weak, makes tissues fragile. It is easy then to understand that recurrent lesions occur, like tendinitis (“tennis elbow, Aquiles tendonitis, “trigger fingers”, etc), bursitis, muscular sprains, rupture of tendons and ligaments that are painful. Also these patients can have hernias, varicose veins at an early age, they can also have ruptured organs such as the lungs (spontaneous pneumothorax) or of the gravid uterus during labor.

 

The pain can be acute or chronic if it lasts for more than 3 months. Acute pain usually appears after a blow, due to hyperextension of a joint or as a consequence of a sudden movement while practicing a sport or exercise and usually lasts for a short period. Due to the alteration of the tissues, the great majority of these patients have chronic pain., that can be of varying degrees.  Severe pain can alter quality of life and at times can be incapacitating. These fragile tissues take longer to heal. In the cases in which there is cartilage rupture, since it has no circulation, the healing is not good and the new cartilage is not normal, but fibrotic and this ultimately leads to osteoarthritis. This condition is painful and since it has a degree of inflammation, we prefer to call it osteoarthritis rather than arthrosis. It is a kind of rheumatism due to wear and tear of the joints that we all get with age, but these patients get it at an early age. Patients should not confuse Osteoarthritis with Rheumatoid Arthritis that is more inflammatory, can destroy joints producing deformities and can be disabling.

 

Osteoarthritis appears in JHS patients, due to abnormal motion of the joint (like wheel misalignment) and because the cartilage is not of good quality, due to the collagen alteration. I tell my patients “that they have tires that are not Michelin”. Besides measures to control pain, it is necessary to reduce activities that aggravate the injury and also is necessary to avoid being overweight. It is also necessary to fortify the key muscle of the joint, like the quadriceps for the knee, by doing daily exercises.

 

Chronic pain alters quality of life, by reducing sleep, sexual functions, social and working relations, physical activities and recreation.

 

The physician needs to decide if the pain is due to overuse of the joint, to trauma or due to early osteoarthritis, since the treatment is different. Interestingly enough, the pain in JHS is more than that, since at times it may look like it lacks anatomical distribution, can be diffuse, can be associated to emotional problems (suffering), can be aggravated by chronic fatigue, anxiety, frustration and resentment, due to familial and doctor incomprehension and the poor results from different treatments. Some have termed this condition ”the invisible disease”, since the person looks healthy and the laboratory test are normal. Frequently we receive patients that have seen many different specialists and had done all kind of laboratory tests, multiple x-rays, scans, magnetic resonance, ultrasound, bone scintigraphy, etc., which have given negative results. Because of this, they are frequently labeled as lazy, antisocial, uncooperative, and depressed, with chronic fatigue or Fibromialgia. The truth is that many JHS patients have Dysautonomia, that because of low blood pressure causes fatigue, dizziness or even syncope. The diagnosis of Fibromyalgia has always been doubtful as a true diagnosis in the mind of many rheumatologists and usually is related mainly to stress. I believe that it shares with JHS many signs and symptoms and for many authors they usually go together, but to me, I feel that in many cases they are the same disease. I wrote an article referring to “JHS as the Fibromyalgia of the XXI century”, that can be seen in my Web Page (www.reumatologia-dr-bravo.cl) .

 

Another painful problem that is seen in young people with JHS is cervical or lumbar disc disease, including herniated nucleus pulposus. In JHS the intervertebral disc disease is caused by the weakness of its collagen.

 

It is useful for the patient to recognize and accept that she/he has chronic pain, to try to help herself and to see the doctor or Kinesiologists. It is necessary for them to see someone with expertise in the subject and to learn which activities do not harm the affected joints and to better select which exercise or sport to practice. It is also important in the selection of which professional career to pursue. Many patients find by themselves a way to do things with less damage to the joints and with energy saving. For some people it is beneficial to prioritize the tasks that need to be done, in this way, patients with chronic fatigue (Dysautonomia), that is frequent in JHS (64% of JHS women younger than 30 years old, as seen in our recent study of 1,000 patients), prefer to do most of their activities in AM and to rest in PM, when they have less energy.

 

It is necessary to discontinue the activity or sport, before the pain caused by it gets to be extreme, since at that time the treatment is less efficacious. Extreme tiredness or exhaustion leads to falls and fractures. Due to the collagen alteration the bones in JHS show low bone mineral density (BMD). We are seeing every day more Osteoporosis in young JHS patients, including adolescents of both sexes. We found Osteoporosis in 19% of males and 19% of females, in our recent study. It appears necessary to do Densitometries to JHS patients at any age. I would recommend doing it after puberty, since at that time there is a great increase in BMD. Patients need to learn how to evaluate pain intensity in a scale from 0 to 10, in which 0 is absence of pain and 10 is maximal pain. This helps to stop the activity that is causing the pain when this is high, but before it gets to be extreme. It also helps to communicate the degree of pain to the doctor. It is also useful to learn how to call different types of pain. Pain can be acute or chronic, like a pinprick, dull, pins and needles, burning, electric, that moves, permanent or comes and goes, it can be generalized (“everything hurts”), irradiates to.., etc. Lately has been known that JHS patients have poor response to local anesthetics, such as when having a dental procedure or when having sutures for a laceration. Another factor that participates in JHS pain is a propioception alteration. This means that the patient does not know exactly where parts of his body are at the time of examination. With the eyes closed he would not be able to determine if the big toe is up or down, when moved by the examining doctor. This propioception alteration makes these patients more liable to traumatic lesions and falls.

 

How to protect hypermobile joints:

 

·        Avoid vicious positions of the joints, like standing with the knees backward, in case of genu recurvatum.

·        Avoid static positions, it is better to move and to change positions on and off. Activity is better than inactivity. If the hands or feet feel are swollen, it is convenient to move them, since improving circulation will decrease the discomfort. This happens at times when walking with the hands hanging, without motion and also during hot weather days.

·        Do not hyperextend too much the joints, because this produces pain at the moment and Osteoarthritis in the long run.

·        It is necessary to protect fingers and wrists from sprains and to use a splint if necessary (better with metallic reinforcement and velcro strap).

·        Do not rotate the joints brusquely, as it happens in basketball or tennis. Also avoid sudden turns of the neck or back, at times it might be better to move the spine as a block.

·        Plan the daily work and other activities to avoid fatigue. Remember that small periods of rest are beneficial.

·        Use the bigger joints and the most potent muscles to do the task. For example, it is better to lift a weight with the forearms and not with the hands and to carry it near your body than far away.

·        The pain is indicating that there is a need to give rest to the joint, to avoid any harm to it.

·        Use a wheelchair or an electric cart, if needed, this will alleviate joint pain, increase mobility, decrease fatigue and improve quality of life. Do not let appearances interfere with your decision to use a cane, walker, wheel chair or an electric cart if you need it.

 

Physiotherapy

 

In an acute process the presence of pain and joint swelling indicates inflammation and rest and anti-inflammatories are needed. Hot or cold packs and splints will help. A plastic bag with frozen peas or with ice or a hot pack, will reduce swelling and pain. It is necessary to be careful and prevent skin burns by placing a towel between the skin and the hot pack.

The use of Ultrathermia and Ultrasound is recommendable. Massage is beneficial to reduce muscle spam or the muscle contraction that might be present. Partial or total body hot baths (Hydrotherapy) are of help, as long as this is not too hot or too long, since this can produce hypotension, fatigue and occasionally a syncopal episode, especially in JHS patients that have Dysautonomia.

Mild exercises, supervised by a Kinesiologists with expertise in joint hypermobility, will help to increase the tone of muscles and tendons. Even though it appears strange, you can do complete range of motion exercises of the lax joints, as long as they do not give pain. In general we recommend Pilates, Yoga, Tai Chi, swimming or bicycling.

Electric stimulation (TENS units) produces the same effect as Acupuncture and both can decrease pain in these patients. Bio-feed back techniques are used for chronic pain.

 

Medications

 

Analgesics. These are useful to treat moderate pain and can be taken as needed for pain. Acetaminophen (Tylenol) is frequently used and since it is not anti-inflammatory it does not produce gastrointestinal irritation. It starts acting in 30 minutes and the effect last 2 to 4 hours, so it has to be given every 4 hours if needed for pain. The maximal daily dose of Tylenol is 4 grams, since higher doses can produce liver damage. Stronger is Tylenol with Codeine, but has additive tendency. For more severe pain we use Tramadol 50 mgs or 15 drops every 8 hours. For neuropathic pain (nerve pain, such as sciatica) doctors prescribe Gabapentin.

 

Anti-inflammatories. We call them Non Steroidal Anti-inflammatory Drugs (NSAIDs), meaning that they do not contain steroids, like cortisone. They are used when there is pain and inflammation, like in tendinitis, bursitis, arthritis, etc. One commonly used, in low doses and for a few days, is Ibuprofen (Motrin), which at this doses acts mainly as analgesic. Higher doses, such as 400 mgs 3 times a day are anti-inflammatory and should be taken with food to prevent gastric irritation. High doses need to be prescribed by physicians, because they can give gastric, hepatic and renal side effects. NSAIDs are dangerous because of the possibility of developing a peptic ulcer, with or without bleeding. Remember that a black, tarry stool is an indication of GI bleed, since digested blood is black. If this happen, the patient needs to stop the medication right away and see the doctor as soon as possible. These recommendations are particularly important if there is a history of peptic ulcers, anticoagulant therapy and also previous to a surgical procedure. The capillary fragility that exists in JHS increases the risk of bleeding. There are many anti-inflammatory medications like Diclophenac, Naproxen, etc The new anti-inflammatories called Anti Cox 2, have less tendency to produce GI problems and less bleeding tendency. In this category you can find: Meloxicam (Hyflex, Isox, Mobex, Tenaron, etc.) and Celecoxib (Celebra). Anti-inflammatories need to be prescribed by physicians, since it is necessary to be sure (with laboratory tests) that there are no gastric, hepatic or renal problems. The anti-inflammatory creams like Diclophenac cream, have a moderate local effect. There are also analgesic creams, like Capsaicin, that is eye irritant, since is made from Chili.

 

Muscle relaxants.  These medications (Cyclobenzaprine) are beneficial because muscle pain is due to muscle contraction. They also help to sleep, but since at times this can interfere with daily activities, is that we give only half a tablet (5 mg) at night. Local heat and massage also produce muscle relaxation.

 

Ansyolitics and Antidepressants. The ansyolitics like Alprazolam and the Trycyclic antidepressants, like Amytriptiline, are beneficial since they also reduce pain, especially the neuropathic pain and they also improve sleep.

 

Techniques for cognitive abnormalities.

 

Hypnosis, special medications, respiratory and distraction techniques are useful in these patients.

 

Support Groups.

 

 It is useful for these patients to alternate with people with similar problems, comment their symptoms, anxiety and frustrations. This helps them to understand better their illness, be more positive and learn how to prevent problems. Many of them tell us that they live afraid, with anxiety and pain, with lack of family and social support and of not being taken seriously by physicians.

 

Treatment and prevention of Osteoarthritis.

 

Osteoarthritis  (wear and tear of the joints) appears early in these patients, due to the hypermobility of the joints and poor quality of the cartilage. For this reason, it is necessary to prevent the wear and tear of the joints maintaining an adequate weight, improving the tone of the key muscle of the joint (i.e. quadriceps for the knee), avoiding excessive hyperextension of the joints, avoiding contact sports and taking medications long term to prevent articular damage, like Glucosamine and Condroitin Sulphate.

 

Treatment of Dysautonomia (chronic fatigue, dizziness and syncope).

 

The treatment for Dysautonomia consists in general measures and medications and is very efficacious. For details see my web Page www.reumatologia-dr-bravo.cl and also see “Treatment of JHS”.

 

Homeopathy and Alternative Medicine.

 

We cannot overlook the fact that some patients have had good results with Homeopathy or some form of Alternative Medicine, including Apiculture (bee stings). On the other hand it is important to know that natural medicines can also be dangerous, like snake venom or bee sting, that can be fatal in cases of allergy, etc. Also is necessary to consider the fact that sometimes precious time is lost, while trying different alternative medications and the real, well know treatment is delayed.

 

Empiric Treatment

 

It is known that 50% of JHS cases are due to Autonomic Dominant Inheritance (50% of the siblings will inherit it), but the other 50% are secondary to genetic mutations. For reasons that I explain in my Web Site, it is my impression that these mutations are due to lack of Folic Acid (FA), during the periconceptional period. It has been proven that the lack of this vitamin (B-9), during this critical period can alter the genes and produce Neural Tube Defects (Espina Bifida) and other congenital malformations. Further more there are studies that show that Homocysteine elevation, due to lack of FA, is associated to osteoporosis, which we frequently see in JHS, even in young patients. I prescribe FA, 0.4 or 1 mg a day permanently, to these patients thinking that it can help in the prevention and also as a treatment of the condition. It has no important contraindications, except if given to patients with Pernicious Anemia, and is beneficial to prevent arterial and venous damage, improves memory, does not make patients gain weight and is not expensive.

 

 

 

Jaime F. Bravo, MD

Rheumatology-Osteoporosis

November 9, 2005

Revised: May 1, 2007

 

 

 

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