Borderline Rheumatic Conditions


Professor J.C.W. Edwards MD FRCP, Professor in Connective Tissue Medicine, University College, London. © 1999.



Borderline Rheumatic Illnesses


Why your illness may not have a name?

Most people have heard of arthritis and many people have heard of special forms of arthritis such as rheumatoid arthritis, or even lupus. These are names given to common conditions which doctors are very familiar with. One of the major advances in our understanding of rheumatic illness is that we now know that it is quite common to suffer from an illness which cannot be given a definite name, but which is none the less very real and can cause a lot of distress and anxiety. Lots of different names can be used for these illnesses, which often makes patients confused. The name "borderline rheumatic illness" is perhaps easiest to understand.

Why it is good to be "borderline"?

By definition borderline rheumatic illnesses are less severe than illnesses with specific names. This is because any illness that causes serious damage to health is likely to have been given a name by now. To be "borderline" means that on the basis of the story you give of your illness, the findings when the doctor examines you, and the tests, nothing indicates that the illness will cause serious harm.

The downside of being "borderline".

The biggest problem with having a borderline illness is the uncertainty. Your doctor will find it more difficult to answer your questions clearly. Different doctors will explain the condition to you in different ways. In addition, there is always a chance that a borderline illness will change its character and become more serious later on. For this reason doctors often ask to see patients every few months to make sure things have not changed, even though they may not be able to help with symptoms such as joint pain and tiredness.

Uncertainty and anxiety are difficult to cope with on top of the symptoms of the illness itself. Until we understand these illnesses better there is no simple solution. However, there are certain guidelines which doctors use to look after borderline rheumatic illnesses and it may be helpful to know something about these.

What are the common symptoms?

Joint Pains: When doctors talk of rheumatic ilnesses they simply mean illnesses that can cause painful joints. Joint pain is common in borderlineillnesses. Pain may also seem to be in the muscles, or to move all round the body. There may be swelling of joints, but often there is nothing to see and patients may be worried that they are not being taken seriously. Doctors like to get a detailed story of how pains behave, because it helps to work out what is causing them. If anything about the pains seems unusual it may be worth jotting it down and telling the doctor at the next visit.

Tiredness: Most of us feel tired when under stress. As with pain, the details of the story of tiredness is important to the doctor. A certain type of tiredness is common in borderline rheumatic conditions and can be the biggest problem of all.

Cold fingers (Raynaud's syndrome): Raynaud's syndrome is a condition inwhich the fingers suddenly go cold and change colour. It can be quite painful, although it may simply be a nuisance. Raynaud's syndrome is common in healthy people and is not of itself a definite sign of rheumatic illness. However, it is much more common in people with rheumatic illnesses of many types.

Hands going numb (carpal tunnel syndrome): Carpal tunnel syndrome is another common complaint which can be part of a rheumatic illness. The person wakes up at night with a hand feeling numb or as if it is swelling up, even though it looks the same. The feeling usually goes off after a few minutes but can come back again and again. The hand may stay numb or tingly during the day.

These symptoms on their own do not allow the doctor to give the illness a name, so it remains borderline. However, some other symptoms may occur which make it easier for the doctor to decide on a name for the illness. It is these symptoms which the doctor tends to look out for especially and may ask about at every visit. These include dry eyes and mouth, which are the main feature of Sjögren's syndrome, rashes, which may indicate one of several illnesses, including lupus, and mouth ulcers, which occur in Behçet's syndrome.

What do all the tests show?

If a person complains of joint pain and the doctor is uncertain about the cause the doctor will usually ask for a number of tests including an ESR and antibody tests.

ESR

ESR stands for erythrocyte sedimentation rate. It simply means how fast the red blood cells (erythrocytes) settle when a blood sample is left to stand. This simple test is used as a rough guide to how much inflammation is present in the body. When there is inflammation, the amount of "sticky" protein in the blood increases, which makes the red cells clump together and settle quicker. The trouble with this test is that the result for normal people is from 1 to 25, or even higher in elderly people, and from 10 to 140 when there is inflammation. It is easy to see that a level of 20 does not mean much. What is more, in borderline rheumatic illnesses there may be joint pains without any true inflammation. The ESR may be 1.

What this all means is that if the ESR is very high the doctor is more confident that a definite illness is present, but a low level does not help very much. What tends to be more useful is to measure the ESR from time to time. If the ESR is high at the beginning of an llness and then becomes low on several visits it is likely that the illness has gone away, hopefully for good.

Antibody Tests

In many cases of borderline rheumatic illness the blood contains what are known as autoantibodies. These are antibodies which, instead of reacting with germs or viruses react with the body's own proteins. Over the last few years a lot has been learnt about these autoantibodies - what they signify and how they may be actually causing disease.

Two main types of antibody test are done in cases of rheumatic illness, the rheumatoid factor test and the antinuclear antibody test.

Rheumatoid factor is an antibody which is often present in people with rheumatoid arthritis. It can also be present in people with borderline rheumatic illnesses. The main significance of a positive rheumatoid factor test is that it makes it more likely the joint problems will be troublesome over a long period and raises the possibility that joints may become damaged. This is not always the case and some people with a positive rheumatoid factor test never have any joint trouble.

Antinuclear antibodies are particularly important in borderline rheumatic illnesses. In many cases it is the positive antinuclear antibody test whichmakes the doctor feel that a person with joint pains needs to be seen regularly over a period of time. There are specific reasons for this. Antinuclear antibodies are associated with a risk of inflammation or damage in internal organs such as the lungs or kidneys. The chance may be very small, and some healthy people have these antibodies without ever running into trouble, but the risk is there. The risk is also related to the strength of the antibody. A low level of antibody, usually described as 1/10 is probably normal. A level of 1/640 indicates a real risk of further problems.

Recent research has allowed doctors to divide antinuclear antibodies up into several types. Each type of antibody is linked to a risk of developing problems in a different part of the body. Antibodies to DNA are linked to kidney problems. Antibodies called Scl-70 are linked to skin problems. This means that even if a doctor cannot give a patient a name for their illness the doctor may be able to give reasonable advice on how long the condition might last and what problems might need to be looked out for. As said before, the good news is that for most people whose illness is described as borderline no really major problems ever develop, even if the antibody tests are positive.

What can be done for borderline rheumatic illnesses?

Perhaps the most difficult thing for people with borderline rheumatic illnesses to cope with is the feeling that nobody understands their illness. Doctors cannot give it a name and friends and relatives cannot see what the problem is. Disagreement between doctors does not help. However, doctors do now realise that symptoms are very real in these conditions, and, as doctors learn more about autoantibodies they are in a better position to explain how the symptoms may be caused. Increasingly over the next few years it should be possible to give patients the information they need to help them cope with their symptoms.

Joint pains are most often treated with the so-called "anti-inflammatory" drugs, which include aspirin, nurofen and prescription medicines such as voltarol. Unfortunately, these tablets do not always work well and they can cause stomach upsets. In some cases other drugs may be used, including hydroxychloroquine, which was first used in malaria, and steroid drugs like prednisolone. There is no simple way of treating joint pain without a risk of side effects, and for some patients it is difficult to find useful relief. However, careful discussion with the doctor about the time of day when pains are most troublesome, the sorts of things which upset joints, and other factors, may help to find a way of using drugs which makes life much easier without causing extra problems.

The tiredness of rheumaic illness is very difficult to treat. New treatments for rheumatoid arthritis suggest that it may be possible to deal with this symptom in the near future. By blocking messenger molecules which cause the tiredness feeling it has been possible to make some arthritic patients feel completely free of tiredness. More work is needed, but these results are very promising.

Raynaud's syndrome can be treated in a number of ways, either by keeping the hands and body warm or by the use of drugs. Patients with troublesome Raynaud's will probably be offered both options. What can you and your doctor watch out for?

Once your doctor has identified your illness as of the borderline rheumatic type, he or she is likely to want to see you from time to time to check how you are. Both you and your doctor can look out for certain specific signs.

Although pains in joints can be a major nuisance, they do not necessarily signify any damage or loss of use of the joint. If joints are swollen, then the risk of damage to the joint may be greater and your doctor may want to use different types of treatment. It is useful to report either to your GP or specialist when joints become visibly swollen, even if for a short period.

It is also useful to report to your doctor if you have a rash, pain, dryness or redness of the eyes or catching pains on breathing.

Some parts of the body can be affected by rheumatic illness without showing any signs at first. The most important are the blood cells and the kidneys.

Rheumatic illnesses may cause the numbers of blood cells to fall. If there are not enough red blood cells the person is anaemic and tends to feel more tired or short of breath. If there are not enough white blood cells the person may develop infections. If there are not enough platelet cells the person may suffer from bleeding. Bleeding from tiny blood vessels in the skin may produce small purplish spots (called purpura) on the legs.

The simplest blood test, which is called the full blood count, tells you and your doctor whether the numbers of blood cells is normal. The full blood count is very useful because it may show a small fall in the numbers of blood cells long before in problem is noticed by the patient.

One of the most serious problems that can occur in rheumatic illness is kidney failure. It is extremely rare in borderline cases. Unfortunately, when it does occur, it may be quite far advanced before anything is noticed by the patient. For this reason it is useful for the doctor to do simple tests to check that the kidneys are working well every few months. The most important things to do are to measure the blood pressure and to test a urine sample. These are very simple to carry out, and can easily be done by a health centre nurse or even by the patient themselves. If your blood pressure is normal and your urine shows no protein or blood cells it is very unlikely that there is any significant roblem with the kidneys. To be absolutely sure your doctor can ask for a creatinine test, which is often done on the same blood sample as the full blood count and ESR.

In summary, if you report any new synptoms to the doctor and the doctor takes your blood pressure, a urine test and a couple of simple blood tests from time to time you can feel confident that problems are likely to be picked up and dealt with before they cause too much trouble.

How research may help us understand how these illnesses come about Scientists have argued for a long time about whether or not the antibodies present in the blood of people with rheumatic illness actually cause the symptoms. We know that antibodies cause symptoms in some other diseases, like myasthenia. Myasthenia is easy to understand, because the antibodies stick to muscle cells at the place where nerves normally are attached. The antibodies block the chemical signals from the nerves and so the muscle cannot work properly. The way rheumatoid factors or antinuclear antibodies might cause symptoms has been much harder to understand, but recent research suggests at least a strong possibility that some of these antibodies cause illness.

Antibodies are molecules a bit like foot soldiers sent out to the furthest corners of the body's tissues to look for enemies in the form of bacteria or viruses. If they find what they think is an enemy molecule they can do two things. They can try to kill the enemy or they can signal back for reinforcements. In order to kill cells antibodies act together with molecules known as complement, and with phagocytic white cells, which can swallow up bacteria once they have been found by the antibodies. Antibodies also make use of complement and nearby cells to send out signals which call in more white cells to deal with more dangerous enemies. The calling in of white cells is what we call inflammation. It is usually associated with pain, swelling and redness of the tissues nearby.

Each antibody can only recognise one type of enemy molecule. Autoantibodies are antibodies which seem to be made by mistake and which recognise one of our own molecules. Autoantibodies are quite common and most of the time do not seem to cause any trouble. However, in rheumatic diseases such as rheumatoid arthritis and lupus they may cause serious problems.

There seem to be three ways in which autoantibodies can cause rheumatic symptoms. Antibodies may stick to molecules in the bloodstream and the two stuck together then cause damage to blood vessels. This is probably what happens in the condition we call lupus. Damage to blood vessels may cause inflammation, but may simply make blood vessels leaky. Leakiness of vessels shows itself especially in the kidney, where the blood vessels leak protein into the urine (which is picked up by the routine urine test). Leakiness of vessels may also make the face or arms and legs swell up, but without any pain, redness or inflammation.

Another way that antibodies attached to their target molecules can cause trouble is by binding to the surface of phagocytic cells and causing the cells to send out signals to bring in more cells. This leads to inflammation and is probably what happens in rheumatoid a rthritis.

A third way that antibodies may affect cells is by binding to molecules actually on the surface of cells or even inside cells. If antibodies bind to the surface of red blood cells the red cells may be destroyed and the person becomes anaemic.

Only recently has it been thought that antibodies may actually get inside cells and cause trouble by binding to molecules within the cell. This would be a bit like grains of sand getting inside the mechanism of a watch. Nothing may happen, but if the sand gets in a particular place it may make the watch work erratically or stop altogether. Certain types of antinuclear antibody may work like this. The white blood cells and the cells lining blood vessels are likely to suffer most because antibody levels are highest in the blood. The result may not be inflammation. A whole variety of things may happen, including disturbances of the immune system and damage to blood vessels, which may lead to poor circulation in the fingers.

How better understanding of antibodies helps you

Now that doctors know that antibodies may cause trouble in a variety of ways it is easier to understand borderline rheumatic illness. Perhaps the most important fact is that antibodies can cause problems without causing any true inflammation. There may be no swelling, even if there is pain and fatigue, and the ESR test may be normal. Symptoms that might have seemed to make no sense, like a dry mouth or cold hands, now fit well into our understanding. It is still difficult to explain everything to people with borderline rheumatic illness but at least doctors can reassure people that what they are describing makes some sense. Hopefully within the next ten years we will know enough to provide a full explanation, and even perhaps devise a cure.

[Picture]