Tuberous sclerosis natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Tuberous sclerosis is a disease that presents with a wide spectrum of clinical manifestations. With appropriate medical care, most individuals can expect normal life expectancy.
Natural History
- Those individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities.
- However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
Complications
- Common complications of tuberous sclerosis include:
- Blindness (due to retinal astrocytic hamartomas);[1]
- Internal bleeding (due to ruptured angiomyolipomas);
- Renal-cell carcinomas;[2][3]
- Chronic kidney disease;[4]
- Lymphangiomyomatosis;
- Multifocal micronodular pneumocyte hyperplasia;[5][3]
- Epilepsy, including its more severe form: infantile spasms;
- Obstructive hydrocephalus due to subependymal giant cell astrocytomas;
- Anxiety;
- Autism;[3][5]
- Heart failure due to intracavitary cardiac rhabdomyomas.[6]
Prognosis
- The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and epilepsy to severe mental retardation, uncontrollable seizures, and kidney failure.
References
- ↑ Wan, Michael J., et al. "Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives." Eye and brain 11 (2019): 13.
- ↑ Henske, Elizabeth P., et al. "Tuberous sclerosis complex." Nature reviews Disease primers 2.1 (2016): 1-18. Jump up↑ "Tuberous Sclerosis Fact Sheet". National Institute of Neurological
- ↑ 3.0 3.1 3.2 Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. doi:10.1056/NEJMra055323. PMID 17005952.
- ↑ Song, Xue, et al. "Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma." Current medical research and opinion 33.7 (2017): 1277-1282.
- ↑ 5.0 5.1
- ↑ Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.