The Burden of Subependymal Giant Cell Astrocytomas Associated With Tuberous Sclerosis Complex

Skalicky, Anne; Rentz, Anne M.; Liu, Zhimei; Wheless, James W.; Pelletier, Corey; Dunn, David W.; Frost, Michael; Nakagawa, Jo Anne; Magestro, Matthew; Prestifilippo, Judith; Pashos, Chris L.

doi:10.1177/0883073814523318

Cited by 15 publications

(21 citation statements)

References 20 publications

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“…However, the TSC guidelines indicate that more surveillance activities (including those studied) should have been recorded in order to monitor symptom progression 1,23 and optimize patient care; it is, thus, concerning that half of the patients recorded no procedures, and one in five patients reported no diagnostic tests. This neglect may contribute to the development of preventable catastrophic events later in life such as kidney failure or death due to uncontrolled epilepsy 40,41 . Furthermore, as morbidity and mortality are most pervasive in adults and associated with later onset pulmonary and renal manifestations 42,43 , we can expect disease complexity and associated healthcare resource use to increase with age.…”

Section: Discussionmentioning

confidence: 99%

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink

Kingswood

Crawford

Johnson

et al. 2016

Journal of Medical Economics

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Background: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder characterized by the development of diverse clinical manifestations. The complexity of this disease is likely to result in substantial challenges and costs in disease management throughout the patient's lifetime. This retrospective database study aims to quantify healthcare resources utilized by TSC patients. Methods: TSC patients in the Clinical Practice Research Datalink linked to the Hospital Episodes Statistics database were identified between January 1987 and June 2013. Analyses were conducted over the most recent 3-year period of data and stratified by pediatric (< 18) and adult patients. Prescriptions, procedures, diagnostic tests, and healthcare encounters were reported in comparison with a matched comparator cohort. Costs and key economic drivers by primary organ system manifestations were also examined. Results: A total of 286 patients with TSC were identified and consistently reported 2-fold greater resource use than the matched presumably healthy controls. Despite this comparatively greater resource use, half of TSC patients did not record any procedures, and 20% of patients did not record any diagnostic tests; however, inpatient hospitalizations were greater for the TSC cohort (3.1 vs 1.3), but length of stay was comparable. TSC patients had costs totaling £12,681 per patient over the 3-year period, a figure 2.7-fold greater than the total costs in the comparator cohort (£4,777). Costs for patients with specific primary manifestations were even greater, with brain manifestations incurring £22,139 per affected patient. Kidney and nervous system manifestations were the main cost drivers. Conclusions: The economic burden of TSC and its impact on NHS healthcare resources is mostly attributable to the broad spectrum of manifestations that develop within multiple organ systems. TSC patients may benefit from co-ordinated care based on their requirement for high numbers of healthcare visits across specialties.

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Section: Discussionmentioning

confidence: 99%

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink

Kingswood

Crawford

Johnson

et al. 2016

Journal of Medical Economics

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“…The measures of DALY and QALY were only used by one study that calculated projected costs of different treatment strategies for epilepsy in TSC [109]. Fourteen studies reported on quality of life [53,56,101,103,105,106,108,115,118,119,[121][122][123]125]. Nine studies (also) reported BOI for caregivers [56,102,105,106,108,115,117,119,125] (five studies reported analyses of the same population or subgroups of the same).…”

Section: Burden Of Illness and Resource Usementioning

confidence: 99%

“…In this study, more than two-thirds of patients worked for pay, but the type (primary vs. subsidized labor market) was not stated by the authors. TSC patients had substantial yearly out-of-pocket costs (median of USD 1750 for pediatric and median of USD 3270 for adult patients, respectively) for both outpatient and hospital care in a US cohort [106]. In a study on BOI of facial angiofibromas in a US population, the cost of medication and lack of a suitable pharmacy were seen as biggest hurdles in receiving topical rapamycin therapy [108], but average costs were not given.…”

Section: Direct Costsmentioning

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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“…Central nervous system manifestations are a common source of morbidity, e.g. infantile spasms [ 14 ], seizures, intellectual disability, and neoplasms (giant-cell astrocytoma) [ 17 ], [ 29 ]. Epilepsy is very frequently, though not invariably, diagnosed in TSC affected individuals [ 24 ], [ 29 ].…”

Section: Introductionmentioning

confidence: 99%

“…infantile spasms [ 14 ], seizures, intellectual disability, and neoplasms (giant-cell astrocytoma) [ 17 ], [ 29 ]. Epilepsy is very frequently, though not invariably, diagnosed in TSC affected individuals [ 24 ], [ 29 ]. Common causes of mortality are pulmonary lymphangioleiomyomatosis, kidney angiomyolipomas, and cardiac rhabdomyoma [ 5 ], [ 27 ], [ 34 ].…”

Section: Introductionmentioning

confidence: 99%

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

Friedrich

Hagel

2014

GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW; 3:Doc12; ISSN 2193-8091

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The Burden of Subependymal Giant Cell Astrocytomas Associated With Tuberous Sclerosis Complex

Cited by 15 publications

References 20 publications

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink

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

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

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