Burden of Illness in People with Epilepsy: From Population-Based Studies to Precision Medicine

Epilepsy, a chronic neurological disorder, is not only common, but is also burdensome both for the affected individuals and for society. First diagnosis triggers costs in regards to diagnostic procedures, inpatient admission and patient’s loss of income. Patients may experience social stigma, have restricted employment opportunities and suffer impairment to the quality of life of both themselves and their caregivers. Subsequently, indirect and intangible costs result as early as the first seizure or the first diagnosis occurs. In the long-term, people with epilepsy are at higher risk for comorbidities, injuries and premature death.

Studies regarding the burden of illness (BOI) look into the manifold consequences of the disease and provide valuable information for patients, caregivers, physicians and other stakeholders in the health system on how to improve patients’ lives and overall outcome from the societal perspective.

For most patients, treatment with anticonvulsants will be necessary over a long period, and – despite optimal medical treatment – up to 30% of patients will remain refractory and continue to suffer from seizures. Due to the increased burden of illness associated with a refractory course of epilepsy, such patients require sound evaluations of their clinical and socioeconomic outcome. In addition, uncontrolled seizures are often accompanied with an increased risk of psychiatric comorbidities, such as depression and anxiety disorders, and an increase in morbidity, such as falls and injuries as direct consequence of seizures, as well as an increased overall mortality from accidents, status epilepticus and SUDEP.

The increasing identification of genetic causes for epilepsy and delineation of the associated phenotypic spectrum is beginning to inform prognosis and treatment. However, there is a lack of adequate studies to allow estimations for the need of precision medicine. Therefore, comprehensive studies on seizure frequency, seizure severity, cognitive improvement or side effects, and quality of life in patients and their caregivers in combination with a thorough phenotyping will be necessary to provide the basis for evaluation and modelling of the impact of new therapies. Only with such available information cost-efficacy of personalized therapy may be shown in the future. This remains particularly important as the introduction of newer antiepileptic drugs, the use of generic medication, the marketing of brain stimulation devices, epilepsy surgery and the breakthrough of newer treatment options may cause a shift in the distribution of cost components resulting in an increase or decrease of total costs. However, costs should not be considered out of context, but must be related to treatment success and increase in quality of life.