Abstract
ObjectiveThis 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.MethodsWe 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.ResultsWe 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.ConclusionsTSC 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.
Highlights
Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects about 1 in 5000 individuals worldwide [1,2,3,4,5,6,7]
When aggregating all published mortality data in tuberous sclerosis complex (TSC) patients, we found that the most common causes of death were sudden unexpected death in epilepsy (SUDEP), kidney complications, and complications from systemic infections
Individuals with TSC and their caregivers share a high burden of disease, which is higher than in many other chronic diseases
Summary
Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects about 1 in 5000 individuals worldwide [1,2,3,4,5,6,7]. TSC can affect many organs, leading to benign tumors presenting preferentially in the skin, brain, and kidneys. The clinical manifestation of the disorder changes during life in a typical pattern. Many individuals are first diagnosed by pathognomonic skin manifestations or secondarily after experiencing seizures, as most individuals with TSC are affected by a structural epilepsy due to cortical tubers or other cortical malformations. The clinical picture of TSC is very broad and can range from mild symptoms that do not limit the individual to manifestations with severe disabilities in multiple organ systems, often involving intellectual impairment
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
