Cerebrospinal multiple sclerosis – what should a non-professional know?
Author: MUDr. Dana Horáková, Ph.D.
Demyelinating Disease Centre, Department of Neurology, the First Faculty of Medicine of Charles University and General University Hospital in Prague
Multiple sclerosis is a chronic disease that affects the central nervous system. If left untreated, the disease causes severe disability in most patients in the course of 10-20 years. Timely administration of modern therapies can substantially modify the course of the disease in the majority of patients. The disease intervenes in various areas of the patient’s life. Proper help thus requires cooperation not only of doctors, but of a number of other specialists.
What is multiple sclerosis (MS)? Answering this question is not an easy task. The term MS encompasses a wide spectrum of various types and grades of conditions that can complicate the patient’s life to varying degrees, from relatively mild to severe, rapidly progressing conditions. At present, MS is understood as a single disease; however, it is likely that MS will be divided into multiple subunits in the future, which should better characterize individual patient groups (Weiner, 2009).
What do we know about the disease now? MS affects particularly young people; its onset can most commonly be seen between ages 20-30, while women are affected more often (2-3 times more frequently). Inflammatory involvement of the central nervous system, i.e. of the brain and spinal cord, is the basis of clinical problems. Most laypersons imagine inflammation as an infection, i.e. some bacteria or viruses that attack a certain tissue. However, besides infectious inflammations there also exist other types of inflammation, such as autoimmune inflammation. And this is precisely the case of MS. This inflammation is based on a certain disorder of the human immune system (IS); to put it very simply, the IS “goes crazy“ and starts doing things it should not do. Its primary function is to protect the body against infections and foreign structures (for example cancer or dead cells). The IS is very well trained for this and its cells are able to recognize the body’s own healthy cells, which they leave alone, and foreign cells, which they normally eliminate very rapidly. In the event of autoimmune diseases, the IS makes a mistake and starts attacking the body’s own tissues.
There are number of autoimmune diseases such as psoriasis (where the IS attacks skin cells), rheumatoid arthritis (joint structures are attacked), Crohn’s disease associated with bowel damage, and MS. With MS, the attack is focused on brain and spinal cord structures. Patients may suffer from various clinical problems depending on where the inflammation flares up at a given moment. Most commonly, the problems include sensation disorders (migratory loss of sensation, tingling, pain), mobility disorders (paralysis of limbs) or vision disorders (a one-sided disorder is a typical manifestation, as if one were looking through a plastic film or dirty glass, often associated with pain in the eye upon movement). Other conditions that may be present include a stability disorder, dizziness, double vision, sphincter or mood disorders (most commonly depression). Although it still remains unknown why such a disorder occurs in the IS, it is known almost with certainty that congenital predisposition is one of the factors (Oksenberg, Barazini et al., 2008). This means that the patient is born with a certain disorder in their genes responsible for IS regulation, and these genes issue wrong signals to IS cells. It is already known that a group of genes is involved instead of a single gene (polygenic disease). The combination of good and bad genes seems to be responsible to a certain extent for the gravity of the condition. However, the genes alone are not sufficient. Hundred thousands of people in the population have a similar predisposition yet never become ill. The congenital predisposition must thus encounter another factor in the course of life. Various viral infections (in particular, a group of herpes viruses that cause conditions such as infectious mononucleosis or herpes), smoking and a vitamin D deficiency are some of the external factors that are suspected of triggering this predisposition. The role of vitamin D is very interesting. This vitamin is created through an action of sunlight in the skin; quite logically, its level would be substantially higher in people living closer to the equator. Indeed, the incidence of MS corresponds to this assumption – the lowest incidence rate is found near the equator, while the numbers of patients rise significantly towards the north and south of the equator. Already the period of foetal development in the uterus seems to be critical where vitamin D plays an important role precisely for proper training of immune system cells. If the mother suffers from a Vitamin D deficiency, the IS of the foetus may develop improperly as early as in this period (Ramagopalan, Maugeri et al., 2009). However, this does not mean that pregnant women should take large amounts of vitamin D. Overdosing on vitamin D can occur, and therefore, the recommended dose should be consulted with a doctor.
An exact understanding of the factors responsible for MS and their relationships is currently the aim of very intensive research. If we succeed in better understanding, for example, the role of individual genes responsible for the gravity of the disease, it will enable us to determine the prognosis in individual patients much better from the onset of the disease. But there still remains a lot to do in this respect.
Now we know what probably causes the disease and how it can be manifested. The next logical step to take is to find out whether MS is actually present when a patient suffers from problems that look like MS. The diagnosis is based on a combination of clinical examination with detailed assessment of the patient’s history and auxiliary methods. Today, these methods include magnetic resonance imaging as a first step, and cerebrospinal fluid examination. Magnetic resonance imaging (MRI) is a very sensitive examination that shows a detailed structure of the brain and spinal cord. MS is characterized by inflammatory lesions that look like white spots in the nervous tissue (Montalban, Tintore et al., 2010). However, not every white spot means MS; a number of factors must always be taken into account, such as the patient’s age, previous diseases and especially further development of the finding.
Sometimes the very first examination shows with high probability that MS is present. In other cases the definitive decision can be made only in the course of time. Continuous emergence and disappearing of lesions in control MRI examinations is typical for MS. Today, MRI is crucial for the diagnosis, but it has been increasingly used also in the follow-up of the disease activity. The examination is very safe. However, itcannot be used in patients with metal objects in the body (in particular, a pacemaker and other implants). Furthermore, a special mode is needed in persons who suffer from claustrophobia (fear of being in closed spaces). This should never be underestimated, and the patients should always discuss their problems in advance with the doctor. The second examination used is the analysis of cerebrospinal fluid (CSF). CSF is obtained through lumbar puncture, which is a relatively simple examination under standard conditions, although frequently excessively demonized by patients. The puncture is done in the sitting position if possible as the technique is substantially easier. CSF is removed using a lumbar needle from the spinal canal, not from the spinal cord! The examination itself obviously involves a puncture, but if everything goes right, the entire intervention does not last more than 10 minutes. Passing out is the most common complication of the procedure. This is usually caused by a drop in blood pressure due to natural fear of the patient. Maximum precautions should be taken to ensure the patient’s comfort, the procedure should be properly explained and the patient’s fear allayed. The so called post-puncture headache is the most common complication after the puncture; it usually appears on the second or third day and may be quite intense after standing up. The headache is caused by the opening that may remain in tissues where the lumbar needle was inserted. CSF may leak through this opening, causing a drop in pressure in CSF pathways. This complication is usually not serious; it requires a resting regimen for several days, sufficient intake of fluids and common painkillers as appropriate. Use of the so-called atraumatic lumbar needle is the main prevention of this complication; it is a special needle designed to cause minimum damage to mater layers. In fact, our own experience confirms that these needles have considerably reduced the incidence of post-puncture headache. The obtained CSF is sent for a number of examinations to confirm or exclude an inflammatory process. An important thing is that CSF examination can also help to exclude other diseases such as some infections (borreliosis or active herpes infections).
After evaluation of the results of both these essential examinations, it is possible to say with high certainty in most of the patients whether or not they have MS. There are obviously cases where the situation is substantially more complex; such cases require further follow-up and examinations. However, discussion of all these differential diagnostic options exceeds the scope of our article.
So what can we say to a patient who has just been confirmed to have MS? What can such a patient expect from the disease? The so called relapsing-remitting form is the most common course of the disease (80-85% patients). It means that periods of clinical problems = attacks (relapses) alternate with periods of clinical stabilization = remissions. The first attack is called a clinically isolated syndrome (CIS). Only when the second attack occurs, we speak of clinically definite MS. However, occurrence of the second attack can be predicted with certain probability already in the CIS period (Fisniku, Brex et al., 2008). If the patient receives no treatment at the beginning of the disease, the most likely prognosis is as follows: attacks and remissions will keep alternating in the patient during the first 10-20 years. The attacks may be either the same or be associated with different symptoms, while the condition should be stabilized in periods of remission, although some residual disorders may remain after the previous attack. Unfortunately, it is impossible now to fully predict the frequency of the attacks and of the intervals in between. On average, after 15 years from the onset of the disease, 60-80% of patients pass to the so-called secondary progression, i.e. the period of rather uncommon attacks, while the patient’s condition gradually keeps worsening. This turn is due to exhaustion of the reserves of the nervous system. The disease is tricky in that the inflammation keeps progressing even during remissions when nothing seems to be happening, thereby “nibbling away“ at the nervous pathways. Fortunately, we are all born with an excess of nerve fibres, and the nervous system is able to compensate for these losses for a certain period of time. However, these reserves become gradually depleted with an active inflammation, and the missing fibres cannot be replaced with anything. The so-called primary-progressive MS is a less common variant of the disease (10-15%); no attacks are present in this case and the patient’s neurological problems gradually worsen.
What can we do today to prevent this process? We cannot cure the disease for now, i.e. we are not able to repair the bad genes. We are not able to “glue together“ the torn nerve fibres at the time when all reserves of the nervous system have been depleted. However, we are able to influence the ongoing inflammation, and we can do this quite well, in fact. If we succeed in slowing down or even stopping the inflammation, there is a great chance that IS cells will not destroy the nerve cells, thereby allowing for normal function of the nervous system. The sooner we try to stop the inflammation, the better, as the condition of the nervous system is obviously the best at the beginning of the disease and our chances to help it are the highest. This is also the answer to the question why the maximum efforts are made today to diagnose and treat the disease in time, and why it requires permanent therapy in most patients. The existing medications are not yet capable of removing the cause, they can only address the consequences, i.e. wrong and excessive activity of the immune system; and unfortunately, this must be continued for the rest of life (Horáková, 2008).
An important question is how to choose a proper medication for an individual patient and how to evaluate whether the medication works (Rio, Comabella et al., 2009). Based on the studies that followed the natural course of the disease in past years, we know with certainty that if left untreated, the disease results in serious disability in most patients within the period of 10-20 years. At the same time, anti-inflammatory drugs have been known based on other scientific studies to be able to affect this course considerably. However, this does not mean that every drug must provide a 100% effect in every patient. The only possibility we have today is to initiate the therapy virtually in all risky patients and to follow the patients very carefully. The aim is to keep the patient’s condition free of attacks, to prevent any neurological worsening and to see a stable finding in MRI scans. When all these parameters fall in normal ranges, the least aggressive drugs are obviously used, and discontinuation of the therapy may even be considered in certain cases with further careful follow-up of the patient. On the contrary, if clear signs of activity of the disease are present (new attacks, new lesions in MRI scans and clinical worsening), we seek to intensify or modify the therapy. Fortunately, our options have improved considerably thanks to new medications that have been approved or are under clinical development, with their approval expected soon.
How can the patient affect the course of the disease? Unlike a number of the so-called civilization diseases, related for example to obesity or smoking, no efficient prevention is currently available for MS. Only regular intake of vitamin D and staying in bed until the infection has passed, particularly in childhood, might serve as certain prevention. Our patients and their descendants definitely should not smoke as smoking is most likely one of the triggering factors.
Despite that, the patient can do something. The immune system is closely intertwined with the nervous system and the psyche, and it has been known from time immemorial that the body itself has great healing abilities. It is thus very likely that the one who is in good mood with a positive attitude can also expect positive signals from the brain to the IS, which may help to affect the inflammatory process. People should also take care of their bodies on a regular basis – the body is not something given to us to be only devastated during life. In general, we should respect the principles of healthy nutrition, eat rather less, eliminate as much as possible any artificial substances and sugars, and drink sufficient fluids. Vitamins should be consumed especially in their natural forms as the body is unable to consume excessive amounts of artificial vitamins anyway. Regular exercise is extremely important. It is quite logical that strong muscles used to certain load will serve considerably better than a “melted“ and flabby body. Moreover, regular physical activity results in releasing the so-called internal opiates, endorphins, which improve the mood and may also have a substantial effect on pain. Patients with no neurological limitations can exercise without any restrictions; they can thus optimally engage in what they like and what they can manage, while regularity is what matters most. Those with a neurological finding need special exercise with the assistance of an experienced physiotherapist who will help to develop a proper training plan.
MS and pregnancy
Frequently asked questions obviously concern MS and pregnancy (Horáková, 2007). The opinion that a woman with MS should not have children was abandoned long ago . In general, there are no objections against the first pregnancy in most female patients in a stabilized condition. The pregnancy should be planned as some medications need to be discontinued in advance or not later than when the pregnancy is confirmed. The pregnancy itself usually stabilizes the disease. The period of the first 6 months after the birth is risky as the risk of an attack increases. However, this does not mean that every woman will have an attack after childbirth. Most patients usually manage the childbirth well; all modes of delivery can be considered, i.e. naturally also the caesarean section, although this variant is not preferred unless gynaecological reasons are present. Epidural anaesthesia can also be administered. It is recommended to lactate for 2-3 months, and then to gradually stop and restart using the original medication(s). However, if the patient’s condition worsens towards the end of her pregnancy, lactation is usually stopped right at the beginning. Deciding on the second and further pregnancies is always more complex; the overall physical load involved when taking care of the children must be taken into account. If the patient is stabilized and her family situation is good, there are no objections.
The risk of inheritability is another frequent question. As indicated by most epidemiological studies, the risk of MS is actually slightly increased in direct relatives of a patient with MS (parents, siblings, children). While the incidence of MS in the regular population is about 1-2 patients per 1,000 inhabitants, in direct relatives it rises to 20-30 patients per 1,000 inhabitants; i.e. among 100 patients with MS, someone in the family will have MS in 2-3 of them. This risk is still very low and definitely does not justify imposing any limitations on our patients. It is also important to emphasize that the disease is not contagious in any way.
Vaccination with MS
Any vaccination means a certain stimulation for the immune system and thus also a certain risk of activating a relapse and of the underlying disease. We are not able to determine this risk with certainty. This obviously does not mean that all types of vaccination should be denied. No objections are raised against those types of vaccination that provide the only reasonable prevention such as common vaccinations in childhood or the tetanus vaccine in adulthood. However, the situation is different in the event of selective vaccines – for example, against tick-borne encephalitis, flue, hepatitis B in adulthood, or vaccines administered before travelling to exotic countries. The risk should always be considered against the benefit, i.e. whether the vaccination is absolutely necessary for the patient, and whether the patient should be exposed to the risk of activating the disease. If the patient decides for such selective vaccinations, the vaccine(s) should always be administered in a period of full clinical stabilization, not during an attack or infection, and several days of a relative resting regimen should be recommended after the vaccination. Based on our experience, patients usually manage such vaccinations well. It is recommended to avoid live vaccines in patients who receive immunosuppressive therapies or other biological therapies that compromise the immune system to a rather substantial extent.
Limitations of patients with MS
MS is a life-long disease and the patient must learn to live with it. Physicians and other healthcare professionals are here to affect the ongoing inflammation as much as possible using the existing scientific knowledge and to provide relief from any negative symptoms of the disease. If they succeed in stabilizing the condition (fortunately, this is the case of a number of patients today), there is no reason to pose any restrictions on the patient. On the contrary, maximum efforts are developed to help the patient live a fully normal life including to continue working and thus to at least partially earn back the resources expended for their very costly therapy. If the patient’s clinical condition worsens and they are no longer able to fully engage in their original profession, projects supporting the employment of persons with reduced ability to work are of immense importance. Such projects entail creating specially adapted working conditions that make it possible to compensate for disadvantage caused by the disease. This approach also involves the support of all projects and activities that enhance the awareness of the disease itself and of related problems.
Multiple sclerosis is a chronic and difficult disease, unfortunately capable of showing quite an ugly side. It is still impossible to cure the disease, and the patients themselves cannot apply any known prevention that would stop the disease without therapy. Fortunately, science and research keep making strides and a truly considerable advancement of available therapeutic options has been seen over the past 10 years. However, all medications that exert an effect on the nature of the disease work especially well at the beginning, which means that the therapy must be initiated as early as possible. Extensive ongoing research gives us great hope for the future.
People with MS need not be felt sorry for; they need to be properly informed, to have prompt access to modern therapies, and to be assisted in the development of equal conditions that will enable them to compensate for any disability due to the disease.
The text was published in the book Zředěný život (Diluted life), Epocha publishers
Texty pro anglickou verzi webu byly přeloženy oddělením překladů a tlumočení jazykové školy Channel Crossings