Tuberous sclerosis natural history, complications and prognosis: Difference between revisions
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{{Tuberous sclerosis}} | {{Tuberous sclerosis}} | ||
{{CMG}} | {{CMG}} | ||
==Overview== | ==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== | ==Natural History== | ||
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===Cardiovascular=== | ===Cardiovascular=== | ||
Rhabdomyomas may be present, being intramural or intracavitary in its distribution along the myocardium. May be detected in utero on fetuses and is associated with cardiac failure. Often disappear spontaneously in later life.<ref name=":0" /> 80% of children under two-years-old with TSC have at least one rhabdomyoma, and about 90% of those will have several.<ref>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. [[Digital object identifier|doi]]:10.1161/JAHA.114.001493. [[PubMed Central|PMC]] 4338742. <nowiki>PMID 25424575</nowiki>.</ref> | |||
* Rhabdomyomas may be present, being intramural or intracavitary in its distribution along the myocardium. May be detected in utero on fetuses and is associated with cardiac failure. Often disappear spontaneously in later life.<ref name=":0" /> 80% of children under two-years-old with TSC have at least one rhabdomyoma, and about 90% of those will have several.<ref>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. [[Digital object identifier|doi]]:10.1161/JAHA.114.001493. [[PubMed Central|PMC]] 4338742. <nowiki>PMID 25424575</nowiki>.</ref> | |||
==Prognosis== | ==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
Ocular
- Retinal astrocytic hamartomas (tumors of the retinal nerve) may cause blindness, but this is not a common presentation.[1]
Renal
- Renal angiomyolipomas may cause hematuria. Angiomyolipomas larger than 4 cm are at risk for potentially catastrophic hemorrhage either spontaneously or with minimal trauma;
- Renal-cell carcinomas that may be diagnosed at a younger age (mean 28 years);[2][3]
- Patients ≥18 years may have higher rates of chronic kidney disease, hematuria, kidney failure, embolization (EMB), and partial and complete nephrectomy compared to patients <18 years.[4]
Pulmonary
- Lymphangiomyomatosis affects mostly women and is a proliferation of smooth-muscle cells that may result in cystic changes in the lungs. Recent genetic analysis has shown that the proliferative bronchiolar smooth muscle in TSC-related lymphangioleiomyomatosis is monoclonal metastasis from a coexisting renal angiomyolipoma. Cases of TSC-related lymphangioleiomyomatosis recurring following lung transplant have been reported.[5] Diagnosed mostly during early adulthood, may cause pneumothorax.
- Multifocal micronodular pneumocyte hyperplasia can occur in both men and women and are mostly asymptomatic.[6][3]
Neurologic
These manifestations are one of the major causes of morbidity in patients with TSC.
- Epilepsy, which is the most common neurological presentation occurring in 70-80% of patients and may complicate with infantile spasms, a severe form of epileptic syndrome. If epilepsy presents with an early onset t is associated with cognitive disabilities, which are also very prevalent in such patients. In 2020 a paper showed that epilepsy remission by appropriate treatment in early life can possibly prevent autism and intellectual disability.[7]
- Neuropsychiatric disorders are present in two-thirds of the patients and anxiety is one of the most common presentations. Autism is one possible manifestation and is especially associated with cerebral cortical tubers. It consists of neurologic tissue that grows in a different pattern, losing the normal six-layered cortical structure, with dysmorphic neurons, large astrocytes and giant cells.
- Subependymal giant cell astrocytomas, which may cause obstructive hydrocephalus. Risk of such benign tumors decreases after age of 20.[3][6]
Cardiovascular
- Rhabdomyomas may be present, being intramural or intracavitary in its distribution along the myocardium. May be detected in utero on fetuses and is associated with cardiac failure. Often disappear spontaneously in later life.[6] 80% of children under two-years-old with TSC have at least one rhabdomyoma, and about 90% of those will have several.[8]
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.
- ↑ Henske EP (December 2003). "Metastasis of benign tumor cells in tuberous sclerosis complex". Genes, Chromosomes & Cancer. 38 (4): 376–81. doi:10.1002/gcc.10252. PMID 14566858.
- ↑ 6.0 6.1 6.2
- ↑ Gupta, Ajay, et al. "Epilepsy and neurodevelopmental comorbidities in tuberous sclerosis complex: a natural history study." Pediatric Neurology (2020).
- ↑ 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.