Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers

Hamer, Hajo M.; Pfäfflin, Margarete; Baier, Hartmut; Bösebeck, Frank; Franz, Melanie; Holtkamp, Martin; Kurlemann, Gerhard; May, Theodor W.; Mayer, Thomas; Metzner, Mirjam; Steinhoff, Bernhard J.; Stodieck, Stefan; Straub, Hans-Beatus; Weber, Yvonne G.; Brandt, Christian

doi:10.1016/j.yebeh.2018.03.006

Cited by 15 publications

(27 citation statements)

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“…In a small study, nine of 11 patients (82%) had at least a 67% reduction in seizure burden [129]. Seizure freedom after epilepsy surgery was reported as 57% in a German study [116], in line with smaller studies performed on children [126,130], and a systematic review (Engel class 1 achieved in 57% of TSC patients) [131]. Intellectual [131,133].…”

Section: Health Care Resource Usementioning

confidence: 64%

“…However, in the UK, a high rate of adult general practitioner visits contrasted with an 88.5% rate of individuals who had never seen a neurologist and onethird of pediatric patients who had not seen a pediatrician during the last 3 years [23]. Data from Germany [116] revealed that one-half of people with TSC (51.5%) visited an epilepsy center less than once a year, and 46.6% scheduled at least two follow-up visits per year. 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].…”

Section: Health Care Resource Usementioning

confidence: 99%

“…In a Dutch study, individuals with TSC and CKD stage III had more scans, nonsurgical procedures, and specialist visits than did those with lower stages of CKD [35]. A multicenter survey from Germany [116] reported that presurgical diagnostics were performed in 27% of patients. Of note, in 34% of individuals with TSC and epilepsy in the UK study, no diagnostic test had ever been performed, while 24.9% had only ever had one test (see Table 3).…”

Section: Health Care Resource Usementioning

confidence: 99%

“…Several studies show an incomplete observation of the TSC Surveillance and Management Recommendations [127] regarding diagnostic renal screening. In a German study, 56.1% of individuals had had renal screening (modality not reported) in the last 3 years [116] and a psychiatric evaluation had been performed in only 13% of individuals with TAND in a French study [53]. Regular neurologic follow-up (62%), regular SEGA brain imaging (15%) and nephrologic screening (40%) also was not regularly applied in all patients [53].…”

Section: Health Care Resource Usementioning

confidence: 99%

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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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Section: Health Care Resource Usementioning

confidence: 64%

Section: Health Care Resource Usementioning

confidence: 99%

Section: Health Care Resource Usementioning

confidence: 99%

Section: Health Care Resource Usementioning

confidence: 99%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

show abstract

“…While cysts are a major concern in children, especially those who have a contiguous gene deletion involving both TSC2 and PKD1 , renal angiomyolipomas represent the main renal cause of morbidity and mortality in adult individuals with TSC (Shepherd, Gomez, Lie, & Crowson, ). The occurrence of renal angiomyolipomas is age dependent, with more than 80% affected by age 18 years (Hamer et al, ). Although angiomyolipomas are benign tumors, they are highly vascular and can encounter spontaneous bleeding, usually presenting with abrupt abdominal pain and hematuria.…”

Section: Clinical Manifestations Of Tsc In Adulthoodmentioning

confidence: 99%

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Peron

Canevini

Ghelma

et al. 2018

American J of Med Genetics Pt C

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Healthcare transition from childhood to adulthood is required to ensure continuity of care of an increasing number of individuals with chronic conditions surviving into adulthood. The transition for patients with tuberous sclerosis complex (TSC) is complicated by the multisystemic nature of this condition, age‐dependent manifestations, and high clinical variability and by the presence of intellectual disability in at least half of the individuals. In this article, we address the medical needs regarding each TSC‐related manifestation in adulthood, and the services and support required. We review existing models of transition in different chronic conditions, discuss our experience in transitioning from the pediatric to the adult TSC Clinic at our Institution, and propose general rules to follow when establishing a transition program for TSC. Although a generalizable transition model for TSC is likely not feasible for all Institutions, a multidisciplinary TSC clinic is probably the best model, developed in accordance with the resources available and country‐specific healthcare systems. Coordination of care and education of the adult team should be always sought regardless of the transition model.

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Epidemiology and disease burden of tuberous sclerosis complex in France: A population‐based study based on national health insurance data

et al. 2022

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Objective: Tuberous sclerosis complex (TSC) is a rare multisystem disorder, often associated with epilepsy. This retrospective study aimed to identify patients with TSC, including those with epilepsy, from a French healthcare claims database, and to report incidence, prevalence, and healthcare costs and resource utilization. Methods: The anonymized French health insurance database (SNDS) covers almost the entire French population. Patients with TSC were identified as having ≥1 International Classification of Diseases, Tenth Revision (ICD-10) diagnosis code Q85.1 or a long-term disease (LTD) registration over the inclusion period (2006-2017). Patients with an ICD-10 epilepsy code or who were dispensed ≥1 antiseizure medication (ASM) in the same year or after their TSC diagnosis were identified as having TSC with epilepsy. Newly diagnosed patients over the inclusion period constituted the incident cohort. Healthcare costs (patients with recorded costs only), healthcare resource use, and ASM dispensation are reported for patients with 2018 data. Results:In 2018, 3139 prevalent patients with TSC were identified (crude prevalence, 4.69 per 100 000); the incident cohort comprised 2988 patients (crude incidence, 0.44 per 100 000). Among patients with TSC, 67% (2101/3139) had epilepsy (mean [standard deviation, SD] age: 28.8 [18.8] years; male: 48%). Among patients with epilepsy, total mean (SD) annual healthcare costs were €11 413 (27 620) per capita (outpatient, 63%; inpatient, 37%), 46% were hospitalized during 2018 (mean [SD]: 1.8 [10.9] acute care visits per patient), and 65% visited a hospital specialist. Among patients with epilepsy, medication (mean [SD]: €4518 [12 102] per capita) was the greatest contributor (63%) to outpatient costs, and in 2018, 74% were dispensed ≥1 different ASM and 9% were dispensed ≥4 ASMs.Significance: TSC with epilepsy was associated with substantial healthcare costs and resource utilization, particularly outpatient and medication costs.

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Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers

Cited by 15 publications

References 15 publications

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

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

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Epidemiology and disease burden of tuberous sclerosis complex in France: A population‐based study based on national health insurance data

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