scholarly journals Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Janina Grau ◽  
Johann Philipp Zöllner ◽  
Susanne Schubert-Bast ◽  
Gerhard Kurlemann ◽  
Christoph Hertzberg ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Direct Cost ◽  
Nursing Care ◽  
Tuberous Sclerosis Complex ◽  
Indirect Costs ◽  
Mtor Inhibitors ◽  
Direct Costs ◽  
Driving Factors ◽  
Care Level ◽  
Organ Manifestations

Abstract Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with various organ manifestations in TSC patients. Methods A validated, three-month, retrospective questionnaire was administered to assess the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket, and nursing care-level costs, completed by caregivers of patients with TSC throughout Germany. Results The caregivers of 184 patients (mean age 9.8 ± 5.3 years, range 0.7–21.8 years) submitted questionnaires. The reported TSC disease manifestations included epilepsy (92%), skin disorders (86%), structural brain disorders (83%), heart and circulatory system disorders (67%), kidney and urinary tract disorders (53%), and psychiatric disorders (51%). Genetic variations in TSC2 were reported in 46% of patients, whereas 14% were reported in TSC1. Mean total direct health care costs were EUR 4949 [95% confidence interval (95% CI) EUR 4088–5863, median EUR 2062] per patient over three months. Medication costs represented the largest direct cost category (54% of total direct costs, mean EUR 2658), with mechanistic target of rapamycin (mTOR) inhibitors representing the largest share (47%, EUR 2309). The cost of anti-seizure drugs (ASDs) accounted for a mean of only EUR 260 (5%). Inpatient costs (21%, EUR 1027) and ancillary therapy costs (8%, EUR 407) were also important direct cost components. The mean nursing care-level costs were EUR 1163 (95% CI EUR 1027–1314, median EUR 1635) over three months. Total indirect costs totaled a mean of EUR 2813 (95% CI EUR 2221–3394, median EUR 215) for mothers and EUR 372 (95% CI EUR 193–586, median EUR 0) for fathers. Multiple regression analyses revealed polytherapy with two or more ASDs and the use of mTOR inhibitors as independent cost-driving factors of total direct costs. Disability and psychiatric disease were independent cost-driving factors for total indirect costs as well as for nursing care-level costs. Conclusions This study revealed substantial direct (including medication), nursing care-level, and indirect costs associated with TSC over three months, highlighting the spectrum of organ manifestations and their treatment needs in the German healthcare setting. Trial registration: DRKS, DRKS00016045. Registered 01 March 2019, http://www.drks.de/DRKS00016045.

scholarly journals Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Johann Philipp Zöllner ◽  
Janina Grau ◽  
Felix Rosenow ◽  
Matthias Sauter ◽  
Markus Knuf ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Direct Cost ◽  
Nursing Care ◽  
Tuberous Sclerosis Complex ◽  
Indirect Costs ◽  
Direct Costs ◽  
Driving Factors ◽  
Medication Costs ◽  
Organ Manifestations ◽  
Care Costs

Abstract Background Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC. Methods A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019). Results We enrolled 192 adults with TSC (mean age: 33.4 ± 12.7 years; range: 18–78 years, 51.6% [n = 99] women). Reported TSC disease manifestations included skin (94.8%) and kidney and urinary tract (74%) disorders, epilepsy (72.9%), structural brain defects (67.2%), psychiatric disorders (50.5%), heart and circulatory system disorders (50.5%), and lymphangioleiomyomatosis (11.5%). TSC1 and TSC2 mutations were reported in 16.7% and 25% of respondents, respectively. Mean direct health care costs totaled EUR 6452 (median EUR 1920; 95% confidence interval [CI] EUR 5533–7422) per patient over three months. Medication costs represented the major direct cost category (77% of total direct costs; mean EUR 4953), and mechanistic target of rapamycin (mTOR) inhibitors represented the largest share (68%, EUR 4358). Mean antiseizure drug (ASD) costs were only EUR 415 (6%). Inpatient costs (8%, EUR 518) and outpatient treatment costs (7%; EUR 467) were important further direct cost components. The mean care grade allowance as an approximator of informal nursing care costs was EUR 929 (median EUR 0; 95% CI EUR 780–1083) over three months. Mean indirect costs totaled EUR 3174 (median EUR 0; 95% CI EUR 2503–3840) among working-age individuals (< 67 years in Germany). Multiple regression analyses revealed mTOR inhibitor use and persistent seizures as independent cost-driving factors for total direct costs. Older age and disability were independent cost-driving factors for total indirect costs, whereas epilepsy, psychiatric disease, and disability were independent cost-driving factors for nursing care costs. Conclusions This three-month study revealed substantial direct healthcare, indirect healthcare, and medication costs associated with TSC in Germany. This study highlights the spectrum of organ manifestations and their associated treatment needs in the German healthcare setting. Trial registration: DRKS, DRKS00016045. Registered 01 March 2019, http://www.drks.de/DRKS00016045.

scholarly journals The effect of sirolimus on angiomyolipoma is determined by decrease of fat-poor compartments and includes striking reduction of vascular structures

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Elieser Hitoshi Watanabe ◽  
Fernando Morbeck Almeida Coelho ◽  
Hilton Leão Filho ◽  
Bruno Eduardo Pedroso Balbo ◽  
Precil Diego Miranda de Menezes Neves ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Blood Vessels ◽  
Tuberous Sclerosis Complex ◽  
Hounsfield Unit ◽  
Mtor Inhibitors ◽  
Volume Reduction ◽  
Tumor Reduction ◽  
Vascular Structures ◽  
Remarkable Reduction

AbstractRenal angiomyolipomas hemorrhage is associated with their size and vascular constitution. The effects of sirolimus on different components of angiomyolipomas was analyzed in patients with tuberous sclerosis complex, sporadic lymphangioleiomyomatosis and multiple sporadic angiomyolipomas. Thirty angiomyolipomas from 14 patients treated with sirolimus were retrospectively evaluated. A Hounsfield-unit threshold was used to classify angiomyolipomas in fat-rich, fat-poor and intermediate-fat tumors, and to categorize tumor compartments in fat rich, fat poor, intermediate fat and highly vascularized. Diameter variations were measured to assess the effects on aneurysmatic/ectatic vascular formations. Volume reduction following treatment with sirolimus was higher in fat-poor than fat-rich angiomyolipomas. Tumor reduction was mainly determined by decrease of the fat-poor and highly-vascularized compartments while the volume of the fat-rich compartment increased. Broad liposubstitution was observed in some tumors. A median reduction of 100% (75 to 100) in the diameter of aneurysmatic/ectatic vascular structures was observed. Our study showed that sirolimus reduces the size of angiomyolipomas by decreasing primarily their highly-vascularized and fat-poor compartments. This effect is associated with a remarkable reduction of tumoral aneurysms/ectatic vessels, revealing the likely mechanism responsible for the risk-decreasing effect of mTOR inhibitors on angiomyolipoma bleeding. These findings support the role of mTOR in the development of angiomyolipoma blood vessels.

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

2019 ◽  
Vol 20 (1) ◽  
pp. 217-240 ◽  
Author(s):  
Catherine L. Salussolia ◽  
Katarzyna Klonowska ◽  
David J. Kwiatkowski ◽  
Mustafa Sahin
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Phenotypic Variability ◽  
Mtor Inhibitors ◽  
Multiple Organ ◽  
Great Promise ◽  
Optimal Timing ◽  
Autosomal Dominant Disorder ◽  
Organ Systems ◽  
Neuropsychiatric Manifestations

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and neuropsychiatric manifestations of the disease have the greatest morbidity and mortality. TSC-associated epilepsy occurs in nearly all patients and is often difficult to treat because it is refractory to multiple antiseizure medications. The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood.

scholarly journals Measuring the Total Cost of Ankle Fractures: A Prospective Analysis

2020 ◽  
Vol 5 (4) ◽  
pp. 2473011420S0006
Author(s):  
Peter C. Noback ◽  
Tess Dougherty ◽  
Christina Freibott ◽  
Eric F. Swart ◽  
Melvin P. Rosenwasser ◽  
...  
Keyword(s):  
Return To Work ◽  
Indirect Cost ◽  
Direct Cost ◽  
Indirect Costs ◽  
The United States ◽  
Direct Costs ◽  
Cost Data ◽  
Ankle Fractures ◽  
Total Cost ◽  
True Value

Category: Trauma; Ankle Introduction/Purpose: Ankle fractures (AFx) are the most common foot and ankle fracture seen at hospitals in the United States, and are undoubtedly costly to patients. Quantification of the costs of fractures and their associated treatments has garnered increased attention in orthopedics in recent years through cost-effectiveness analysis. However, literature pertaining to AFx’s almost never reports on the indirect costs of AFx’s, and thus fails to accurately assess the true value of treatments. The purpose of this study was to prospectively assess the direct and indirect costs of AFx’s in operatively and nonoperatively treated patients. Secondary analysis included evaluation of the composition of indirect cost, the duration these costs are endured, and the factors that influence their magnitude. Methods: A prospective observational single-center study was performed. Adult patients presenting for initial consult for an AFx that could speak English or Spanish were enrolled. Polytrauma patients and those unable to provide complete indirect cost data were excluded. Patients completed a cost form that asked the money they had spent in the last week on transportation, household chores, and self-care due to their AFx. Patients were considered to have complete indirect cost data if they returned for follow-up visits until they reported no recurring indirect costs and had returned to work. Direct cost data was obtained directly from the hospital billing department. Amount collected was utilized. Direct costs included any costs incurred from staff treating the patient, supplies required for treatment, and the use of healthcare facilities. A descriptive analysis of the entire cohort and stratification by operative status was performed for the primary comparative analysis. Results: 60 patients were ultimately analyzed. Average age was 46.5 years. 55% were female. 10% of patients were diabetic. 17% smoked cigarettes actively. Weber A, B, and C fractures composed 12%, 72%, and 18% of fractures, respectively. Operatively treated patients (n=37) had a significantly higher total and direct cost than non-operative patients (P<0.01). Average salary of the 39 employed patients was $61,416 and return to work period was 11.2 weeks. In all patients, lost income accounted for the largest portion of total and indirect cost, averaging 38% of total cost. Longer periods of return to work were significantly associated with undergoing surgery and having less than a college-level education (P<0.05). Average number of weeks for indirect costs to amount to zero was 19.1. Conclusion: In patients treated operatively and nonoperatively, the largest cost component was an indirect cost: missed wages at 28.6% and 63.3%, respectively. While the majority of the direct costs of AFx’s are accrued in the period immediately following the injury, indirect cost components will regularly be incurred for nearly 5 months and often longer. The degree and duration to which these indirect costs accumulate are novel findings. Future research should no longer neglect reporting on an intervention’s impact on the indirect costs of AFx’s. [Table: see text]

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