Condition AZ: r

The initial symptoms of RP may begin suddenly. The most common first symptom is pain and swelling of the ear. Both ears may turn red or purple and are tender to the touch. Swelling may extend into the ear canal causing loss of hearing, ear infections, balance disturbances with vertigo and vomiting, and eventually a droopy ear. Throat pain may occur leading to hoarseness and difficulty talking. The nose may be affected and deterioration may lead to a flattened nose bridge (sometimes known as a ‘saddle nose’). Inflammation of the eye occurs causing impaired vision. Fatigue and weight loss are common symptoms in RP and fever frequently accompanies acute flares.

During the later stages, the symptoms of RP may become more debilitating and life-threatening. RP may cause deterioration of the cartilage holding the windpipe open and this may lead to difficulties breathing. Deterioration of the rib cartilage can lead to the collapse of the chest, again hindering breathing. Joints everywhere are involved in episodes of arthritis (see entry, Arthritis (Juvenile Idiopathic)), with pain and swelling. As the disease progresses over a period of years, the mortality rate increases. Kidney failure (see entry, Kidney disease) may lead to death.

The disease may occur episodically with complete remission between episodes, or it may continue over time, causing progressive destruction (atrophy) of organs. Individuals may have persistent symptoms between acute flares or the pattern of disease may be more limited. The severity and the frequency of symptoms associated with RP varies between people and with time. Furthermore, the areas affected by RP may either remain constant or be completely unpredictable for each person.

Cartilage is a tough, flexible tissue that changes into bone in many places in the body. Before birth, all bones start out as cartilage. Although children have more cartilage than adults, cartilage persists in adults in the linings of joints, the nose, the ears, the airway and the ribs near the breast bone. All these areas of the body may be affected by RP.

For many individuals, the cause of their condition remains unknown. However, RP is thought to be related to an underlying immune problem.

Individuals may have a wide array of symptoms that often pose major diagnostic dilemmas and RP may be misdiagnosed or under diagnosed. RP is frequently diagnosed along with rheumatoid arthritis, systemic lupus erythematosus (see entry Lupus), and other connective tissue diseases.

Although there is no cure for RP, in many patients the disease is well controlled with methotrexate, with acute flares being controlled with steroids.

Inheritance patterns
RP occurs sporadically.

Prenatal diagnosis
None available.

Relapsing Polychondritis Support Group (UK)

Email: polychondritisUK@googlemail.com

The Group was established in 1987. It offers support and information and aims to raise awareness of relapsing polychondritis among the public and medical profession. The group will link individuals where possible and has a very active yahoo group.

Group details last updated April 2016.

It is not unusual for the pains to start in a localised area of the body (such as the ankle following sporting injury). The pains quickly intensify and there is a reluctance to move round. Often the painful area expands, spreading over time to involve larger areas of the body. In describing the pain, words such as ‘stabbing’, ‘throbbing’, ‘burning’ or ‘aching’ are used. The discomfort increases and becomes constant. As the pains continue, the young person tries not to use the area of body affected, this leads to muscular spasms, odd positioning or style of walking (gait) and greatly reduced fitness. This in turn further amplifies the pain. Unfortunately pain has a direct affect on other systems, leading to symptoms that can be as disabling as the pain itself (these include blurred vision, nausea, dizziness, headaches, extreme coldness, tummy pains and areas of numbness). Localised idiopathic pain syndrome simply describes pain that remains in a localised area (such as a limb). Within this descriptive diagnostic group are the complex regional pain syndromes (reflex sympathetic dystrophy).

As with other chronic pain conditions CRPS is widely believed to be multifactoral in origin some of the factors which may contribute to the cause of the condition are:

Trauma
It is not unusual for an adolescent with a localised chronic pain to recall a sporting injury, operation or other trauma around the time that the chronic pain commenced. Whether or not this is causal is not clear. Excessive joint movement (hypermobility) has also been associated with falls and subsequent pain problems. There may often be a period of enforced immobilisation; this may be an additional factor in the development of a chronic pain syndrome.

Psychosocial factors
Although often tempting to cite psychosocial distress as a trigger to chronic pain in adolescents, the data is lacking. Undoubtedly the pain associated disability and impact on lifestyle that follows has an enormous effect on psychosocial wellbeing.

Genetics
There is some evidence that CRPS may have a genetic predisposition in Caucasian women, but the underlying genomics are far from clear. Most young people with CRPS have no other relative with the same condition.

Environmental
It has been reported that girls have lower pain thresholds, poor sleep patterns and a tendency to hypermobility when compared with boys. This may, in part, explain the greater number of females with pain conditions. With CRPS there is a small, but significant, number of boys who present.

Pathophysiological
Once more there is very little data on how body functions are related to the condition (pathophysiology) of childhood chronic pain. It has been widely postulated that, in childhood CRPS, there is either overactivity of the sympathetic nervous system or under-responsiveness of the alphaadrenergic pathways. This is unproven.

The diagnosis of CRPS 1 remains based on observation of symptoms (clinical). There is often a precipitating trauma but not always. The pain is usually out of proportion to the inciting event. Autonomic changes are present; these include swelling, reduced skin perfusion and difficulty in distinguishing between hot and cold. There is also a marked reduction in range of movement and, in severe cases, ulceration. In adolescents the legs are more commonly affected. Occasionally more than one limb may be affected at presentation. It is not unusual for a hand or other leg to develop CRPS months after a leg has been affected. This may be due to the use of crutches and subsequent pain amplification but may also have no obvious trigger. Young people with CRPS may also develop low mood and overwhelming fatigue. This further complicates the clinical picture.

One of the most important aspects of rehabilitation is that of inclusion. A dedicated team that works consistently with the adolescent and family will facilitate communication and enable goals to be reached earlier. It is essential that the young person is worked up medically to ensure no ongoing disease process or trauma is present. If the pain is coexisting with a known illness, then it is important that this is as stable as possible before rehabilitation.

Medical therapies
The number of analgesics and interventions used is a sign that there are no well controlled therapeutic trials in the arena of childhood chronic pain. It is becoming widely accepted, however, that any analgesic intervention should be alongside multidisciplinary therapy. It is unusual for analgesia to work alone.

Complementary therapies are commonly utilised by patients with chronic pain. The evidence supporting many of these therapies in children and adolescents is poor but many young adults find certain therapies such as acupuncture, massage and aromatherapy helpful.

Multidisciplinary rehabilitation
The aim of treatment is to enable the young person to return to age appropriate activities and lifestyle. Ideally this would be pain free but, in many cases, this is initially with the pain.

Physiotherapists, occupational therapists and psychologists are key players in the team. They will be the primary professionals supporting the young person and the family. The physician is there to provide support if needed, occasional analgesic advice and very rarely, direct intervention. Intensive physiotherapy may be given for a set period of time. The aim of this is accelerated mobilisation. However many cases of pain will require a gentle, paced approach. In all cases the increase of activity should be consistent despite the pain. Where possible the young person should work to devise their own ‘fitness plan’. Fun games can be included with an aim to return gradually to activities the young person previously enjoyed. Using a local gym rather than a hospital physiotherapy gym allows them to start to return to a more normal environment.

Working in this consistent, paced manner is extremely hard for the young person and their parents. The pain invariably continues at the beginning (if not throughout) and motivation is poor. Parental anxiety is understandably high and there is a fear that damage will be done. Psychological support during this time is key. The young person will need help setting goals, learning how to communicate pain to peers and family, keeping up motivation on ‘bad days’, managing low mood, dealing with anger and frustration and overcoming fears. Often they have not been at school for a long period of time and need help in preparing again for this difficult environment. In some cases there may be other mental health needs that can be identified and appropriately treated. Relaxation, advice on sleep and eating and advice on how to pace other areas of life can all be given by members of the team.

Most cases of complex regional pain syndromes in children have a favourable prognosis if early physiotherapy is initiated (with psychological support). A prolonged time to treatment and the presence of marked autonomic changes are not good prognostic indicators. Relapses of pain are relatively common but, in our experience, if the young person and their family recognise the onset of similar pains and put into practice physical and emotional strategies that have previously been taught, then the impact of the pains can be significantly reduced.

Inheritance patterns
As far as we can ascertain, inherited predisposition to this syndrome is unclear.

Prenatal diagnosis
None.

There is no support group for reflex sympathetic dystrophy in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

The key feature of Raynaud’s is colour changes associated with exposure to cold or any change in temperature. These changes occur most commonly in the hands, but may also affect the feet and occasionally other extremities, such as the nose or the tips of the ears. The hands of Raynaud’s patients turn white, then blue, then later red as the circulation improves. In severe Raynaud’s, there may be considerable pain, ulceration or gangrene. Raynaud’s can occur in children, although it is rare. The symptoms are the same as those of the adult disease.

Although the precise cause of Raynaud’s is not known it appears to be due to excessive constriction of the blood vessel wall due to increased levels of normal stimuli that narrow blood vessels or deficiency of the factors that normally open them. In severe cases, blood vessels may become thickened or partially blocked. Recent studies suggest that there can be a genetic basis and Raynaud’s can run in families but this is complex and cannot yet be tested for in a routine way.

Raynaud’s is diagnosed usually by history of colour changes (white, blue, red) in the hands in response to cold and the condition can be confirmed by special tests that examine blood flow after cooling the hands or using medical charts with pictures of typical hands during a Raynaud’s attack. More important is the distinction between primary and secondary Raynaud’s and this requires blood tests and sometimes an examination of the blood vessels at the fingertip using a special magnifying lens or microscope.

Treatments include avoiding cold exposure, avoiding cigarette smoking and using devices such as hand warmers. Many sufferers find certain vitamin or nutrient supplements helpful and some require prescription medication from their doctor. Current drugs used are mostly vasodilators that block spasm or open up narrowed blood vessels. Side effects such as headache can limit their use, but many find them beneficial.

Inheritance patterns
Raynaud’s can be hereditary but this is not due to a single gene rather a combination of genetic factors and so there is no simple test for this. Reassuringly the cases of Raynaud’s that are inherited are almost always primary Raynaud’s.

Prenatal diagnosis
None.

Information and support in the UK for Raynaud’s phenomenon is provided by Scleroderma and Raynaud’s UK (see entry Scleroderma).

Most children present with seizures (see entry Epilepsy) involving one side of the body (focal epilepsy). The epilepsy is usually difficult to control. As time goes on, children also become weak on the same side of the body as the seizures. This weakness usually becomes permanent (hemiplegia) and they lose some of their visual fields (they can still see, just not in every direction). Children also begin to have problems with their learning (cognitive decline). Eventually they are likely to have learning disability. They may have particular problems with speech if the side of the brain controlling language is involved (language dominant hemisphere). For some children these symptoms and their severity progress very quickly over months, for others the disease goes slowly over years.

Whilst we do not know what triggers RE, we do know that RE is an autoimmune disorder. This means that T lymphocytes, a type of white blood cell, are involved in the inflammation and damage of the brain tissue.

Diagnosis is based on the clinical picture of epilepsy, emerging weakness, MRI brain scans showing the loss and damage to brain tissue, and electroencephalographs (EEG) showing abnormal electrical activity in the brain. There is no specific blood test, and brain biopsies are not needed to make the diagnosis.

Anti-epileptic drugs can help to control seizures (see entry Epilepsy), but they do not stop the condition. There are also treatments targeting the autoimmune basis of RE. These include oral steroids, azathioprine, tacrolimus and intravenous immunoglobulins, although new medical treatments are being considered, so this list is not complete. However, it is important to remember that, whilst these treatments may slow down RE, they do not cure it.

Surgery is the only treatment known to stop RE. The affected side of the brain is disconnected from the healthy brain (the operation is usually called a functional hemispherectomy). Unfortunately, while surgery is very good at stopping seizures, it does result in a permanent weakness on one side of the body (hemiplegia) and visual field loss (if the child doesn’t already have these as a result of RE). Deciding on surgery should be done by the family, young person, doctors and a specialist epilepsy surgery service. 

Inheritance patterns
None.

Prenatal diagnosis
None.

Information and support in the UK for Rasmussen’s encephalitis is provided by the Encephalitis Society (see entry Encephalitis).