Multiple sclerosis

Content

Introduction

Multiple sclerosis is a chronic (i.e. persistent, long-lasting) disease that affects the central nervous system (brain, spinal cord, and optic nerves). The disturbances it causes can be manifold and may concern sight, limb movements, sensitivity or balance (Video).

In multiple sclerosis, the body's defense system (immune system) attacks the central nervous system by damaging the myelin, the skin that covers and protects the nerves, and the nerves themselves. The loss of myelin (demyelination) occurs in multiple areas (from which the term "multiple ") named plaques, and causes the formation of scar tissue (hence the term "sclerosis"). When myelin and nerve fibers are damaged, nerve impulses are disturbed or interrupted causing the multiplicity of disorders (symptoms) that characterize the disease.

Multiple sclerosis is the second most common cause of neurological disability in young adults, after the trauma caused by road accidents; the disease, in most cases, is found (diagnosed) between the ages of 20 and 40 but can appear at any age and is about three times more frequent in women than in men. Worldwide, there are approximately 2.5 million people with multiple sclerosis; the geographic areas most affected are those with a temperate climate and far from the equator (Northern Europe, United States, South Australia and New Zealand).

According to a recent estimate, in Italy in 2015 there were about 110,000 people with multiple sclerosis; Sardinia is the most affected region.

The course of multiple sclerosis is unpredictable. Some people may feel good for many years while others may rapidly develop disabilities; most people with multiple sclerosis fall between these two extremes. The disease begins in one of two ways. : with acute attacks and relapses or with a gradual progression.

Multiple sclerosis with relapsing-remitting course

It is the most common form of the disease and is characterized by attacks that arise suddenly and are characterized by the appearance of new disorders (symptoms) or the aggravation of existing ones. Episodes can last for days or months and alternate with periods in which complaints are absent or mild. The disease can remain inactive even for months or years. About 85% of people with multiple sclerosis are diagnosed with the relapsing-remitting form. After several years (typically 15-20), many, but not all, develop the so-called form of the disease. secondarily progressive characterized by a lower frequency (until the disappearance) of acute attacks and by a continuous functional worsening.

Primarily progressive multiple sclerosis

In about 10% of people with multiple sclerosis the so-called form is ascertained (diagnosed) primarily progressive, characterized by a slow and progressive worsening of disorders (symptoms) since the onset of the disease, without distinct phases of relapse and remission.

Symptoms

In multiple sclerosis, the impairment of nerve signals, resulting from the loss of myelin and nerve fibers, causes disorders (symptoms) that can vary both according to the location of the damage and from individual to individual.Disorders can be mild (numbness of the limbs) or severe (paralysis or loss of vision) and, depending on the form of multiple sclerosis (relapsing remitting or progressive), they may arise and then disappear, or diminish, or worsen over time (Video ).

The most common complaints include:

  • muscle fatigue and weakness even in carrying out the usual daily and work activities. These disorders occur in about 80% of people with multiple sclerosis
  • sensitivity disorders, such as tingling (or paraesthesia), loss of sensitivity to touch, difficulty in perceiving heat and cold, pain (even intense)
  • disorders of balance and motor coordination
  • bladder disorders (for example, incontinence) and bowel (for example, constipation)
  • vision disturbances: double vision (diplopia), blurred, sudden drop in vision or uncontrollable eye movements (nystagmus)
  • dizziness and vertigo
  • sexual disorders
  • cognitive disturbances (memory and concentration problems)
  • depression and anxiety
  • spasticity (feeling of stiffness and muscle spasms)

Less common symptoms include: speech disturbances, dysphagia (swallowing disorders), headaches, seizures, impaired hearing, tremors, itching and breathing problems.

Most of the disorders due to multiple sclerosis can be addressed and treated with specific pharmacological and non-pharmacological therapies, among which rehabilitation has a fundamental role.

Causes

Although the cause of multiple sclerosis is still unknown, the disease is believed to be triggered by a complex interaction between genetic and environmental factors (Video). It is hypothesized that exposure to certain environmental factors before sexual maturation (puberty) may predispose a genetically susceptible person to develop it.

Genetic factors

While not strictly speaking a hereditary disease, having a first degree relative (such as a parent or brother / sister) with multiple sclerosis significantly increases the risk of getting sick. In homozygous twins, who share the same genetic makeup, the increased risk of disease is about 30%, while in heterozygous twins (with non-identical genetic makeup) the probability drops to about 4%.

The use of increasingly sophisticated techniques to decipher the human genome (the genetic code that contains all the information necessary for the functioning of the organism) is allowing us to identify a growing number of genes that modify the risk of getting sick and will allow us to better understand their role in the development of multiple sclerosis.

Environmental factors

Several environmental factors, both infectious and non-infectious, have been proposed as risk factors for multiple sclerosis.

The disease is more common in populations living far from the equator, and decreased sun exposure has been associated with an increased risk of getting sick. The relationship between multiple sclerosis and sun exposure is believed to be mediated by vitamin D, a vitamin that l " organism naturally produces when the skin is exposed to sunlight. Vitamin D could act on the body's defense system (immune system) and have a protective effect in various so-called diseases immune-mediated.

Even if multiple sclerosis is not a disease that is transmitted from individual to individual, there is a deep-rooted belief that infections are decisive in triggering the process that leads to its appearance (pathological process). Among the numerous infectious agents (viruses, bacteria and other microbes) to which the organism is exposed during infancy, some have been identified and studied as possible causes of the disease but for none of them conclusive evidence has been provided.Currently, the Epstein-Barr virus (the virus that causes infectious mononucleosis) is the infectious agent showing the strongest association with the disease, although a causal role has not been definitively demonstrated.

Recent studies indicate a higher risk of getting multiple sclerosis among smokers.

Diagnosis

Currently, there are no single disorders (symptoms) or tests that can determine whether or not a person has multiple sclerosis (Video). The neurologist uses several strategies. On the one hand, it assesses whether or not the person falls within the criteria established to consider multiple sclerosis as ascertained (diagnosed); on the other, he verifies that the causes of the disturbances cannot be other.

Such strategies include:

  • accurate analysis of the state of health of the person over time (anamnesis)
  • neurological examination, with an in-depth assessment of the following functions: strength and coordination of movements, balance, sight, sensitivity, reflexes and cognitive functions
  • instrumental examinations, such as the nuclear magnetic resonance which allows to detect the presence of lesions or plaques in the various parts of the central nervous system, and the "evoked potential" test which allows to measure the activity of the nerves
  • laboratory tests, in particular the analysis of the cerebrospinal fluid, or CSF (colorless and transparent fluid that surrounds the brain, spinal cord and peripheral nerve roots), which is collected through a lumbar puncture. It allows to detect the presence of antibodies (the so-called bands oligoclonal) which indicate an abnormal immune response in the central nervous system and are present in 90-95% of people with multiple sclerosis (although not specific to this disease)

Therapy

There is currently no cure for multiple sclerosis but there are several treatments, pharmacological and non-pharmacological, which allow to modify the course of the disease, to reduce the number of relapses (or attacks), to manage the disorders (symptoms), to improve functions and safety. Taken together, the available treatments are capable of improving the quality of life of people with multiple sclerosis.

For the treatment of acute attacks, cortisone drugs in high doses are commonly used with the aim of reducing inflammation.

Approved medications that can reduce disease activity and progression in many people with the relapsing-remitting form include:

  • interferon beta-1a
  • peginterferon beta-1a
  • interferon beta-1b
  • glatiramer acetate
  • cladribine
  • mitoxantrone
  • fingolimod
  • teriflunomide
  • dimethyl fumarate
  • natalizumab
  • alemtuzumab
  • ocrelizumab

Ocrelizumab is the first drug approved for the treatment of the primary progressive form of multiple sclerosis at an early stage and with radiological features of inflammatory activity. Recently, the EMA (European Medicine Agency) authorized the use of a new drug, siponimod, for the treatment of people with active secondary progressive multiple sclerosis; in order for the drug to be accessible to people with multiple sclerosis in Italy it is necessary the approval of the AIFA (Italian Medicines Agency) and subsequently of the local regional authorities and in some cases of the ASL.

Rehabilitation programs are designed to help the person with multiple sclerosis improve or maintain the ability to perform activities effectively and safely both at home and at work. Rehabilitation is an important component of care in all stages of the disease and includes: physiotherapy, occupational therapy, communication and swallowing disorders and psychological rehabilitation.

Prevention

There is no specific prevention for multiple sclerosis, a complex disease to which both genetic and environmental factors contribute.

Current knowledge indicates that multiple sclerosis can develop more easily in individuals who have a vitamin D deficiency, who have had obesity problems in childhood, who have contracted Epstein-Barr virus in a symptomatic form (infectious mononucleosis) and who are smokers.

Therefore, the promotion of a healthy lifestyle, which strengthens the immune system and favors a correct exposure to sunlight and a correct intake of vitamin D in the diet, the prevention of childhood obesity and the absence of smoking, these are all important factors in reducing the risk of getting multiple sclerosis.

Living with

People with multiple sclerosis should follow a healthy lifestyle, prefer a "complete and balanced diet and exercise" adequate to their abilities and aptitudes.

Although there is no clear evidence that diet alone can affect disease, personalized nutrition can reduce some of the many ailments caused by the disease and improve quality of life. A well-balanced diet provides energy and strengthens the body's ability to fight infections, helps maintain proper functioning of the bladder and intestines and can help manage some ailments such as fatigue.

Finally, we must not forget that in the evolution of multiple sclerosis some disorders (symptoms) can influence the choice of foods such as, for example, intestinal disorders or difficulty in swallowing (dysphagia). A balanced diet also allows you to keep under I control body weight, especially in people forced to inactivity.Loss of appetite, due to the side effects of some medications, can cause excessive weight loss, often accompanied by general weakness that aggravates already impaired motor functions.

Some foods contain substances that are particularly useful for the functioning of the central nervous system and for the protection of the myelin sheath. Among these, polyunsaturated fats (of which vegetable oils are particularly rich, some types of fish such as salmon, herring and anchovies, almonds and walnuts) and some types of vitamins (folic acid, vitamin B12). An adequate intake of carbohydrates, which provide energy to the body, and the reduction of fatty and heavy foods help to control fatigue, while a diet rich in fiber promotes bowel function.

Physical activity helps strengthen muscles and bones and increase elasticity, as well as reduce the sense of fatigue. If carried out consistently and in company, it is also supportive to face moments of discouragement and depression. Several clinical studies have shown that regular physical activity can have positive effects on the physical limitations present in multiple sclerosis. It is important to choose and plan physical activity together with a physiotherapist or healthcare professional who can identify a suitable and compatible program. physical and general situation.

There are various types of exercises and physical activities aimed at improving endurance, mobility and balance:

  • stretching, which allows you to work on the elasticity of the muscles to prevent stiffening
  • yoga, which combines physical exercise with breathing, relaxation, including mental relaxation, and awareness of one's own body
  • physical activity in the water, which, thanks to the decrease in gravity, facilitates movements and makes physical effort more sustainable; water also helps to control body temperature by avoiding the heat which is often negative for people with multiple sclerosis

A very common disorder (symptom) among people with multiple sclerosis is fatigue, to be understood as a subjective lack of physical and / or mental energy perceived by the individual. It can have an important impact on daily life, interfering with usual activities, such as washing , dressing or cooking, on personal and relationship life. The renunciation of physical activity can be even more damaging than the fatigue itself; therefore, there are some techniques that can be useful to manage it and allow the person with multiple sclerosis to perform daily activities, such as:

  • learn to balance activity and rest
  • schedule activities, setting priorities
  • learn to recognize signs of fatigue early
  • pay attention to posture with which you perform the activities
  • learn to relax and to breathe correctly

In-depth link

Italian Multiple Sclerosis Association (AISM)

Italian Multiple Sclerosis Association (AISM). Multiple Sclerosis Barometer 2019

Italian Multiple Sclerosis Association (AISM). AISM guides on multiple sclerosis

Lopes L. Multiple sclerosis: the symptom of fatigue. AISM editions, 2009

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