A straightforward overview of the causes, symptoms, diagnosis, treatment, and prevention of tuberous sclerosis.
Causes
There are two genes that cause tuberous sclerosis: the TSC1 gene on chromosome 9 and the TSC2 gene on chromosome 16. These mutations disrupt the function of proteins involved in cell growth and proliferation, leading to the development of tumors in multiple organs, including the brain, kidneys, heart, lungs, and skin.
Symptoms
Tuberous sclerosis symptoms vary depending on the location and size of the tumors. Some common symptoms include:
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There are several types of skin lesions, including raised, rough patches of skin (facial angiofibromas), skin-colored growths (adenoma sebaceum), and light-colored patches (hypomelanotic macules).
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Tuberous sclerosis is associated with epileptic seizures, which affect approximately 80% of individuals.
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Learning disabilities, intellectual disabilities, and behavioral disorders may occur, ranging from mild to severe.
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Pain, bleeding, or kidney failure may occur as a result of tumors in the kidneys (renal angiomyolipomas).
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Arrhythmias, heart failure, and other cardiac complications can result from tumors in the heart (cardiac rhabdomyomas).
Diagnosis
Tuberous sclerosis is diagnosed by:
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The healthcare provider will examine the patient's medical history, symptoms, and family history of tuberous sclerosis.
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Tuberous sclerosis can be diagnosed by a thorough physical examination, which may reveal characteristic skin lesions.
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Tumors in the brain, kidneys, heart, or other organs may be visualized using imaging studies such as MRIs or CT scans.
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Tuberous sclerosis can be diagnosed by genetic testing, which detects mutations in the TSC1 or TSC2 genes.
Treatment
Tuberous sclerosis may be treated with the following options:
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Antiepileptic medications are used to control seizures, while other medications are used for skin lesions, behavioral problems, and kidney problems.
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In cases where tumors cause significant symptoms or complications, such as obstructing vital organs or causing bleeding, surgical removal may be necessary.
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A minimally invasive procedure called embolization can be used to shrink or block blood vessels supplying tumors, particularly renal angiomyolipomas.
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Tuberous sclerosis requires ongoing medical monitoring and supportive care to manage symptoms, monitor tumor growth, and prevent complications.
Prevention
Tuberous sclerosis can be prevented by:
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Couples with a family history of tuberous sclerosis or mutations in the TSC1 or TSC2 gene may benefit from genetic counseling to assess their risk of passing the disease on to their children.
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Individuals at risk of having a child with tuberous sclerosis may be offered prenatal genetic testing, allowing for an early detection and informed decision-making regarding pregnancy management and care.
