Epilepsy in tuberous sclerosis patients in Sweden – Healthcare utilization, treatment, morbidity, and mortality using national register data

Welin, Karl-Olof; Carlqvist, P.; Svensson, Anders; Althin, Rikard; Eklund, Erik A.; Rask, Olof

doi:10.1016/j.seizure.2017.10.005

Cited by 31 publications

(67 citation statements)

References 23 publications

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“…Overwater et al (2015) used several different AEDs, such as VPA, LEV, and VGB, with VPA being the most frequently prescribed first treatment. Similar data have been obtained in a Swedish study where VPA, CBZ, LTG, LEV, and TPM were the most commonly prescribed drugs (Welin et al, 2017). Similar data have been obtained in a Swedish study where VPA, CBZ, LTG, LEV, and TPM were the most commonly prescribed drugs (Welin et al, 2017).…”

Section: The Most Effective Aeds Appeared To Be Carbamazepine (Cbz) Andsupporting

confidence: 82%

“…This was also the most frequently used drug in infants presenting with focal seizures. Similar data have been obtained in a Swedish study where VPA, CBZ, LTG, LEV, and TPM were the most commonly prescribed drugs (Welin et al, 2017). Recently, also Lacosamide appeared to be an effective and safe treatment of refractory focal onset seizures in TSC (Geffrey, Belt, Paolini, & Thiele, 2015).…”

Section: Post-seizure Treatment Of Epilepsysupporting

confidence: 78%

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Current concepts on epilepsy management in tuberous sclerosis complex

Canevini

Curatolo

Briola

et al. 2018

American J of Med Genetics Pt C

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Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease affecting approximately 1 in 6,000 people, and represents one of the most common genetic causes of epilepsy. Epilepsy affects 90% of the patients and appears in the first 2 years of life in the majority of them. Early onset of epilepsy in the first 12 months of life is associated with high risk of cognitive decline and neuropsychiatric problems including autism. Prenatal or early infantile diagnosis of TSC, before the onset of epilepsy, provides a unique opportunity to monitor EEG before the onset of clinical seizures, thus enabling early intervention in the process of epileptogenesis. In this review, we discuss the current status of knowledge on epileptogenesis in TSC, and present recommendations of American and European experts in the field of epilepsy.

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Section: The Most Effective Aeds Appeared To Be Carbamazepine (Cbz) Andsupporting

confidence: 82%

Section: Post-seizure Treatment Of Epilepsysupporting

confidence: 78%

Current concepts on epilepsy management in tuberous sclerosis complex

Canevini

Curatolo

Briola

et al. 2018

American J of Med Genetics Pt C

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“…Subependymal giant cell astrocytomas (SEGAs) were found in 24.4% of the TOSCA population. SEGA can obstruct the intraventricular space and lead to noncommunicating hydrocephalus requiring surgery (22.4% of those [20][21][22][23][24][25] The prevalence rate (32.9%, 35.9%) of pharmacoresistant epilepsy is similar to general population with focal epilepsy [26,27]. A mutation in the TSC2 gene is a risk factor for infantile spasms (47.3% vs. 23% with TSC1 in TOSCA) as well as an earlier manifestation of epilepsy, a higher seizure frequency, and pharmacological refractoriness [28].…”

Section: Neurological Manifestationsmentioning

confidence: 97%

“…In general, children were most frequently seen by neurologists, pediatricians, and ophthalmologists, adult patients most often visited neurologists, psychiatrists, and dermatologists, probably reflecting the changing clinical course of TSC throughout life [23]. In Swedish individuals with TSC [27], almost all (87.8%) of the study participants had experienced an outpatient visit with an International Classification of Disease 10th Edition (ICD-10) code identifying epilepsy.…”

Section: Health Care Resource Usementioning

confidence: 99%

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Zöllner

Franz

Hertzberg

et al. 2020

Orphanet J Rare Dis

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Objective: This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes, heart, and lungs. Methods: We performed a systematic analysis of the available literature on BOI in TSC according to the PRISMA guidelines. All studies irrespective of participant age that reported on individual and societal measures of disease burden (e.g. health care resource use, costs, quality of life) were included. Results: We identified 33 studies reporting BOI in TSC patients. Most studies (21) reported health care resource use, while 14 studies reported quality of life and 10 studies mentioned costs associated with TSC. Only eight research papers reported caregiver BOI. Substantial BOI occurs from most manifestations of the disorder, particularly from pharmacoresistant epilepsy, neuropsychiatric, renal and skin manifestations. While less frequent, pulmonary complications also lead to a high individual BOI. The range for the mean annual direct costs varied widely between 424 and 98,008 International Dollar purchasing power parities (PPP-$). Brain surgery, end-stage renal disease with dialysis, and pulmonary complications all incur particularly high costs. There is a dearth of information regarding indirect costs in TSC. Mortality overall is increased compared to general population; and most TSC related deaths occur as a result of complications from seizures as well as renal complications. Long term studies report mortality between 4.8 and 8.3% for a follow-up of 8 to 17.4 years. Conclusions: TSC patients and their caregivers have a high burden of illness, and TSC patients incur high costs in health care systems. At the same time, the provision of inadequate treatment that does not adhere to published guidelines is common and centralized TSC care is received by no more than half of individuals who need it, especially adults. Further studies focusing on the cost effectiveness and BOI outcomes of coordinated TSC care as well as of new treatment options such as mTOR inhibitors are necessary.

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“…Understanding the epidemiology and disease burden of TSC is crucial for better management of the TSC population (20). Six population-based studies regarding the prevalence and mortality of TSC in the recent 15 years can be found (Table 1) (12,(21)(22)(23)(24)(25)(26). Amongst the six studies, three studies feature the prevalence of TSC in Caucasian population, with variable prevalence rate (ranges from 1 in 7,872 to 1 in 24,956).…”

Section: Introductionmentioning

confidence: 99%

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

Chu

Chiang

Chan

et al. 2020

Preprint

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Background We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with documented visits to our local public hospitals in 1995-2018 were identified. The public hospitals captured most if not all local TSC patients. Demographics such as age, sex, death, genetic profiles were retrieved from the central electronic database. Data including prevalence, age distribution and survival rate were analysed. Direct cost was calculated with reference to the drug use and number of visits to various public hospital facilities. Results We identified 284 surviving TSC patients (55.3% male) in Hong Kong. The age range was from 4.5 months to 89.9 years, with a median age of 27.2 years. Paediatrics (<18 years) to adult (≥18 years) ratio was 1:2.84. The overall prevalence of TSC patients was 3.87 in 100,000 (i.e. 1 in 25,833). Genetically, TSC1:TSC2 ratio is 1:2.7. Thirty seven patients died within the study period. The age of death ranged from 7.6 years to 77.8 years, with a median age of death at 36.6 years (IQR: 24.7-51.1 years). Most patients survived till adulthood. Survival rate at 20 and 50 years follow-up was 98.6% and 79.5% respectively. Two hundred and twenty nine TSC patients (71.3%) had neurological manifestations, sixteen patients (5.0%) had chronic kidney diseases and five patients (1.6%) had pulmonary lymphangioleiomyomatosis. Forty seven (16.5%) TSC patients were prescribed with mTOR inhibitors within the study period. Healthcare facility utilization was further analysed in the 2008-2018 cohort. In particular, the mean number of specialist out-patient clinic visits per patient-year was 9.23 per patient-year, which was 4.91 times more than that of local general population. Conclusions Prevalence of local TSC patients is within the range of that reported in the literature. Local TSC patients have fair long term survival, but they require disproportionally high healthcare cost when compared with the general population, particularly in terms of outpatient (OP) visits. Although effective disease-modifying agent (i.e. mTOR inhibitor) is available, it was not widely used yet in Hong Kong despite the fact that Government approved and supported its use recently. Further research on quality of life and setting up a comprehensive patient registry are necessary for more accurate assessment of cost and benefit.

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Epilepsy in tuberous sclerosis patients in Sweden – Healthcare utilization, treatment, morbidity, and mortality using national register data

Abstract: The prevalence of epilepsy in this study was in the lower range of previously reported numbers, suggesting that epilepsy may be overestimated in non-population based studies. A substantial part of the healthcare utilization was directly related to epilepsy.

Cited by 31 publications

References 23 publications

Current concepts on epilepsy management in tuberous sclerosis complex

Current concepts on epilepsy management in tuberous sclerosis complex

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

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