Is epilepsy hereditary? Can it be cured? All the answers to your doubts – breaking latest news

When a patient is diagnosed with epilepsy for the first time, the most frequent questions he asks the doctor are: but a disease or a disorder (passenger)? hereditary? Can it be cured? What are epileptic seizures? Although epilepsy has been known for centuries, it is still difficult to give clear answers to these simple questions.

What is epilepsy?

Perhaps the best definition of epilepsy was given in 1870 John Hughlings Jackson, the Anglo-American scientist, father of neurology as a science, who linked his name to the particular type of epilepsy called precisely Jacksonian: A convulsive attack – said Jackson – nothing more than a symptom that indicates the occurrence of an electric discharge, occasional and excessive, of nerve cells over muscle cells. The definition given twenty years ago by the ILAE, the International League against Epilepsy, is less immediately understood: a brain disorder characterized by a chronic predisposition to generate epileptic seizures with neurobiological, neurocognitive, psychological and social consequences. At least one epileptic seizure must occur to be considered epilepsy.

Flashing lights and sleepless nights

But don’t think that even the great experts have an answer for everything. Like any medical classification, this too is rigid and does not adapt to the individual: it is unable to explain, for example, cases such as that of a boy who, exposed to flashing disco lights, has an attack and who then, subjected to an electroencephalogram with the so-called photostimulation (that is, with flashing light stimuli), presents the tracing of a reflex epilepsy induced by those stimuli. This is not true epilepsy: in order to be able to say that that boy suffers from it, at least two attacks are needed. In the same way if, after a sleepless night, a young person has a crisis and the electroencephalogram shows typical bursts of high voltage called burst (which characterize juvenile myoclonic epilepsy syndrome), also in this case a second seizure is necessary to reach the diagnosis. This rare form of epilepsy is one of the most common hereditary forms in adolescence and triggered by sleep deprivation and alcohol intake; characterized by myoclonic jerks of the upper limbs upon awakening, cognitive impairment and, in 30% of cases, by generalized tonic-clonic seizures and absence seizurescondition in which the boy seems lost in his thoughts and does not react to sound and visual stimuli.

Centuries of ignorance and prejudice

More than in the others, in this disease it is important to relieve the patient and even more his relatives, the family if they are adults or the parents if they are minors, from the veil of shame that surrounds them, a legacy of centuries of ignorance and prejudices. which have their roots in the Middle Ages. At the beginning of the 90s, according to a Doxa research, 27% of Italians knew nothing about this disease and twenty years ago (according to an Aice survey – the Italian Association against epilepsy) many people were convinced that it was an incurable disease, that epilepsy patients were suffering from mental disorders, with episodes of sudden aggression. Even today, people with epilepsy are regarded at least with suspicion and many think they should be kept away. Nothing compared to what happened in ancient Scotland, where the sick person was subjected to castration to prevent him from begetting children.

Sacred and demonic evil

In ancient Greece epilepsy was sacred evil and those affected by it were considered possessed by the gods, while remaining an outcast, a person different from the others. If for the pagan Greeks the epileptic patient was in a certain sense closer to the gods, in the Christian Middle Ages the relationship was reversed and the sick person becomes a prey of the devil, in the same way as the mentally ill, also considered victims of the Underworld; the physical manifestations of epileptic seizures were equated to satanic possession. Dante Alighieridescribing in Divine Comedy a patient struck by an epileptic attack (verse 112 of canto XIV of theInferno), speaks of those who fall and do not know how, by force of the demon who pulls him to the ground. that medieval demonization that fuels today’s prejudices. As Jackson said, the epileptic attack is only an electric revolt unleashed by a group of anarchist brain cells which quickly involve the others in their mutiny: if the cells that are associated with this revolt are few, the attack remains focal, i.e. confined to a small area of ​​the brain. If, on the other hand, there are many, the attack becomes generalised.

Electric impulsivity

When everyone will understand that epilepsy simply a phenomenon of cerebral electrical impulsivityHowever, this disease will suddenly lose much of the aura of mystery and shame that has haunted it for centuries, because when a disease is recognized as having a precise organic basis, its stigma quickly dissolves. The same happened for example with in meningitis, a disease that was not even mentioned in our grandparents’ time because it evoked thoughts of its debilitating results. That shame dissipated only when, with the progress of therapies, even meningitis became a treatable disease like any otherfreed from the risk of negative consequences observed for centuries and that they had come to be regarded as inescapable. Similarly, even epilepsy can now definitively free itself from the stigma that has always persecuted it: today it is practically always curable and the patient can live with it, leading an almost normal existence.

Types of epilepsies and treatments

Most epilepsies (there are about thirty different forms, divided into four groups according to the ILAE classification since 1989) can be treated with non-pharmacological adjuvant treatments and with many drugs (from the old gardenale to the more recent cenobamate), which allow you to avoid crises or reduce their frequency and intensity, because they attenuate the hyperexcitability of the cells of the cerebral epileptic focus; when this is not possible, the epileptic focus is surgically eliminated. By now we know how much and what type of efficacy can be expected from drugs in the various forms of epilepsy and in fact, depending on the type, the same drug can be considered first or second choice.

Care rules

To treat epilepsy correctly you need first of all a precise diagnostic framework. The second rule is that one can never generalize in therapy: for example, in some cases good results have been reported with a single drug, reaching a percentage of 80% of patients free from seizures; in others, several drugs must be used together; then there are cases (such as some primary generalized epilepsies or some partial epilepsies of childhood) which, due to the rarity or nocturnal onset of seizures (not serious) or due to the constant evolution towards spontaneous healingdo not require treatment.

individual factors

After choosing the right drug it is equally important to establish the dose and method of administration, which depend on absolutely individual factors such as age, clinical picture and kinetic characteristics of the drug: these are factors that vary so much from person to person that, since the early 1970s, their influence has been controlled through continuous verification of drug concentrations in the body by means of a simple blood sample. important indeed maintain drug concentrations within effective levels.

useful concentrations

For each of the anti-epilepsy drugs the blood concentration it has a maximum limit and a minimum limit, within which in most cases the best therapeutic response is obtained. It is not an absolute value because, as often happens in therapies, each subject has his own: in some cases the crises disappear with values ​​even below the minimum limit, while in others it is necessary to reach the maximum concentrations. Even more variable is the individual response to the various drugs available today. While all patients generally have some response to each antiepileptic, some respond very well to the first, while others may have to try two or three different ones before they get the best effect.

Drug resistance

The exception is that 30% of drug resistant patients who go from one drug to another in an infinite balancing of the pros and cons of each therapy, often without getting much. Since treatments must be adapted on a case-by-case basis, it is not always possible to immediately identify the right drug and the best dosages for each individual patient: sometimes the therapy adjustment period takes a long time and it may happen that the patient, disheartened, entrusts himself to another doctor. Even in these behaviors it plays a certain weight the stigma associated with epilepsyfor which the patient wants to get rid of a shameful disease as soon as possible, either the fear of more serious diseases (usually fears a brain tumor) which leads to discrediting the doctor’s diagnostic interpretation, an idea that ends up being supported by what the patient erroneously interprets as the ineffectiveness of the therapy: He makes me take antiepileptics but who knows what I have, because I don’t see any improvement.. ..

Parental guilt

In other cases, especially when it comes to the first episode of the disease, it is the parents (especially the mothers) who have it an initial rejection of the diagnosis and antiepileptic therapy for the child, even if it is no longer a boy or a girl: the diagnosis very frequently triggers in them a subtle sense of guilt for the shame of having him or having them transmitted an infamous disease: We have always been healthy is the phrase often addressed to the doctor who communicates the diagnosis, because one is unable to accept the shame of being involved in the transmission of epilepsy: a disease which, however, it is worth repeating, not hereditary except in very rare well-known forms.