Conversation with Prof. Bojinov on International Epilepsy Day

On 12 February we celebrate the International Day of People with Epilepsy. This common neurological disorder affects over 70 thousand Bulgarians and about 60 million people worldwide. Prof. Dr. Plamen Bozhinov is a leading neurologist and head of the Heart and Brain Clinic for Neurological Diseases.

The word epilepsy is of Greek origin and means ‘to grasp, seize, overwhelm’. This term was first used by Aristotle to define conditions accompanied by seizure manifestations. John Hughlings Jackson (1835-1911) contributed to the scientific description of various types of epilepsy. Some of these descriptions were based on his observations of his own wife’s epileptic seizures. These seizures always began in the same way: with involvement of the wrist and subsequent spread to the shoulder, face and finally the leg on the same side of the body. Later, epileptic seizures with similar spread were called Jacksonian, and their spread was defined as Jackson’s march.

Can we briefly tell what epilepsy is?

Epilepsy is a disease affecting the central nervous system (CNS) that is characterized by an individual predisposition to recurrent manifestations called epileptic seizures. They are characterised by intermittent, unprovoked, identical for each patient and in most cases unpredictable disturbances of consciousness, behaviour, emotional state, motor functions, perception or a combination of these. These clinical manifestations are the result of a suddenly occurring, deviating from normal (abnormal) hyperexcitability of brain neurons, called crisis (paroxysmal). In a combination of various genetic and acquired conditions, this hyperexcitability may begin to recur after some time (become chronic) and lead to the development of the disease epilepsy.

The incidence of the disease varies between 4 and 10 per 1000 people. Epilepsy in Bulgaria occurs in about 3% of the population, with an average of 240-3600 new cases diagnosed annually (30-45 cases per 100 000 population). About 50% of epilepsies begin in childhood, before the child reaches the age of 10, and a total of 75% occur by the age of 20. The peak of manifestations in children is around the fourth year, and in adults over 65 years. The mortality rate is between 0.4 and 4 per 100,000 patients, with the most common cause related to the onset of status epilepticus.

When it comes to epilepsy, we should not forget about the stigma associated with this disease.

Yes, it is. Even patients with a mild disease, without accompanying forms of disability, feel stigmatised (marked) and their illness leads to serious social disadvantages. Epilepsy is responsible for significant medical and social impairment and therefore requires medical, neuropsychological, psychiatric and social interventions. In about 60-70% of patients with epilepsy, medication response is good and the active phase of the disease (with the presence of seizures) covers a short period. These patients need short-term rehabilitation, but at the same time a full evaluation and varying degrees of long-term psychological and social support. For the remaining patients with refractory epilepsy, a more prolonged and intensive rehabilitation is needed, especially as 10% of patients with epilepsy have persistent learning problems and the presence of other debilitating conditions.

What are the specifics in diagnosis?

Diagnosing epilepsy and determining the type of epileptic seizures is an important part of the medical art, and specialists are called epileptologists. These are neurologists who have a great deal of practical experience and are familiar with all the steps involved in making or rejecting a diagnosis of epilepsy. Important stages in the diagnostic plan are: recognition and description of epileptic seizures; differential diagnosis (DD) with conditions other than epilepsy but presenting with changes in consciousness, motor, sensory, autonomic or psychic manifestations; proof of the chronic course of the disease in the absence of an obvious seizure provoking factor; proof of the type and aetiology of epilepsy. To make a correct diagnosis, the first step is to take a correct history (accompanying conditions; symptoms during and after the seizure). Secondly, a good assessment of the somatic condition helps to differentiate epilepsy from other diseases that may have similar clinical manifestations. Neurological examination may reveal signs of local or diffuse brain damage, but in most cases there may be no apparent neurological symptomatology.

What else helps specialists?

Epilepsy can arise secondary to various pathological conditions, for example, traumatic or inflammatory changes in the structure of the brain, infectious diseases affecting structures of the nervous system, metabolic disorders, autoimmune diseases in which the immune system reacts against its own structures of the nervous system, and last but not least – to genetic defects. In some cases, even with the use of all the possibilities of modern medicine, the cause of epilepsy can not be established.

After carrying out a wide range of standard tests to exclude the most common causes of secondary epilepsy (imaging, laboratory analyses, immunological tests), genetic analyses can be extremely useful in clarifying the aetiology in some cases. To date, more than 200 genes have been identified that are directly associated with the onset of epilepsy, and dozens of others are known to be associated with the development of diseases in which epilepsy or epileptic seizures are part of the symptoms.

What is the role of genetics here?

Establishing the genetic cause of epilepsy is important because it not only confirms and clarifies a patient’s diagnosis, but can be critical for making therapeutic decisions, allowing assessment of prognosis and prediction of the course of the disease, as well as assessing the risk of affecting other relatives. Making an accurate diagnosis has social, economic and normative implications, allowing those affected to find an adapted place in society, obtain an adequate assessment of their ability to work and to relate to others with the same illness.

Genetic studies to establish the cause of epilepsy are varied, as they offer a search for fundamentally different genetic disorders – there is no universal method of analysis. The choice of the appropriate tests and the order in which they should be carried out is individual and tailored to the disease history of the particular patient. It is done with the help of a medical geneticist who, in the context of a genetic consultation, explains to the patient the advantages and limitations of the different methods and the meaning of genetic analyses so that the patient can make an informed decision about his or her own health.

These and other types of analyses, as well as expert genetic counselling by a team of specialists with high qualifications and clinical experience, are offered for patients with genetically determined epilepsy in the medical genetics laboratory at , Heart and Brain’. The laboratory has state-of-the-art equipment and operates to established European standards. The ability to work collaboratively with specialists from all medical specialties within the hospital allows for a multidisciplinary individualized approach to each patient’s care. In this way, patients with rare genetic syndromes whose clinical picture includes epilepsy can receive an accurate diagnosis and possibly specific treatment without long delays.

The highly specialised hospitals , Heart and Brain’ employ some of the best epileptologists and neurologists in our country. In the high-tech hospital complexes in Pleven and Burgas, specialists can make the most accurate diagnosis of the type of epilepsy and epileptic seizures, conduct genetic testing and drug monitoring, and prepare an individual treatment plan for each patient.