The Burden of Seizures in Adults with Tuberous Sclerosis Complex (TSC) and Epilepsy: Data from a Specialized Center in Netherlands

Objective: To describe the characteristics of patients with TSC-epilepsy, by seizure burden. Background: Epilepsy is a major manifestation of TSC, but seizure burden is not well described in this population. Design/Methods: Retrospective chart review of adults with TSC-epilepsy followed in a TSC specialty center at the University Medical Center Utrecht in Netherlands from 1990–2015 (N=237; 7,860 person-years follow-up). Epilepsy spectrum in TSC was described overall and in four subgroups defined based on the proportion of time the patient lived with seizures (two are reported below: seizure-free over the full patient history recorded in the charts [N=63] and with seizures over the full patient history [N=49]). Results: Patients had a mean age of 46 years (range: 24–86) and 56% were males. Associated subependymal giant cell astrocytoma (SEGA) and angiomyolipoma (AML) manifestations were present in 27% and 78%, respectively. TSC2 was more common than TSC1 mutation (49% vs. 15% of 227 tested) and 76% had severe/mild cognitive impairment. Based on patients’ records, 14% experienced generalized seizures only, 40% experienced focal seizures only, and 20% experienced both. Grand mal status epilepticus and fractures were experienced by 13% and 11%, respectively. Patients used a mean of 4 anti-epileptic drugs (AEDs; in any sequence; range 0–14). Compared to patients seizure-free at all times, those with seizures at all times were more likely to have cognitive impairment (67% vs. 92%); live in a group home (49% vs.78%); experience a grand mal status epilepticus event (3% vs. 22%); have fractures (0.0% vs. 29%); or use multiple AEDs (mean number of AEDs: 1.6 vs. 5.0; p Conclusions: Among adults with TSC, epilepsy posed a heavy clinical burden in terms of need for treatment and epilepsy-related events, especially for patients who have seizures for prolonged periods of time. Unmet needs remain in this difficult to treat population. Study Supported by: Novartis Pharmaceuticals Corporation Disclosure: Dr. Zonnenberg has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with I received personal compensation for Novartis Pharmaceuticals Inc for consulting, advisory boards, and speaking. Dr. de Ranitz-Greven has nothing to disclose. Dr. Ionescu-Ittu has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with I am an employee if Analysis Group, an economic consulting firm that is engaged by a variety of clients in the bio-medical arena for a range of services including the development of protocols, posters, abstracts, and manuscripts for health economics and o. Dr. Ionescu-Ittu has received research support from I am an employee if Analysis Group, an economic consulting firm that is engaged by a variety of clients in the bio-medical arena for a range of services including the development of protocols, posters, abstracts, and manuscripts for health economics and o. Dr. Emond has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with I am an employee if Analysis Group, an economic consulting firm that is engaged by a variety of clients in the bio-medical arena for a range of services including the development of protocols, posters, abstracts, and manuscripts for health economics and o. Dr. Emond has received research support from I am an employee if Analysis Group, an economic consulting firm that is engaged by a variety of clients in the bio-medical arena for a range of services including the development of protocols, posters, abstracts, and manuscripts for health economics and o. Dr. Duh has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with I am an employee if Analysis Group, an economic consulting firm that is engaged by a variety of clients in the bio-medical arena for a range of services including the development of protocols, posters, abstracts, and manuscripts for health economics and o. Dr. Duh has received research support from My employer Analysis Group has received research funds from various pharmaceutical companies. Dr. Neary has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with I am an employee of Novartis Pharmaceuticals Corporation. Dr. Vergeer has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Owner and employee of Redgrasp (a company in healthcare performance support). Dr. Vergeer has received compensation for serving on the Board of Directors of Owner and employee of Redgrasp (a company in healthcare performance support). Dr. Vergeer has received research support from Research support by Analysis Group, sponsored by Novartis.