Tuberous sclerosis complex (TSC) manifests differently in each patient. At the Washington University Tuberous Sclerosis Clinic, we manage and treat each patient with TSC on an individual basis.
TSC symptom treatments
Seizures can be treated with a number of available seizure medications (antiepileptic drugs or AEDs), although many patients with TSC have poorly-controlled seizures despite multiple trials of medications.
Vigabatrin is a seizure medication that has extremely good efficacy for infantile spasms in patients with TSC. However, vigabatrin can cause significant side effects with visual field constriction or loss of peripheral vision. But central vision remains intact, so patients do not develop blindness and typically the visual deficits are mild and difficult to detect, so overall the benefits of vigabatrin in treating infantile spasms is thought to outweigh any risks.
For patients with poorly-controlled seizures on medication, there are potential non-medical options that can be considered. Recently it has become clear that epilepsy in at least a subset of patients with TSC may benefit significantly from brain surgery to remove active tubers, especially if one or a limited number of tubers can be identified that are causing the seizures. To consider epilepsy surgery, a comprehensive evaluation should occur at a specialized center experienced in epilepsy surgery.
A special diet (ketogenic diet) and a vagal nerve stimulator are two other non-medical options that could be of benefit to epilepsy patients, and should be considered in consultation with a specialized center.
Neurological symptoms of TSC, such as learning problems, developmental delays, behavioral issues and autism, are approached primarily with educational strategies, therapy services, and behavioral management techniques. Similar approaches are used for these relatively common problems in many patients, with or without TSC.
From the standpoint of childhood learning and development, it is generally wise to be pro-active in the educational process of patients with TSC and to perform detailed testing (e.g. neuropsychological testing). Even children with TSC who appeared to have normal developmental milestones can sometimes be found to have mild learning disabilities or attentional problems that cause significant impediments to success in school.
Behavioral problems and autistic behavior can be especially difficult to deal with from the family and school’s perspective. However, a variety of behavioral therapies, as well as occasional, judicious use of medication, can help make these problems manageable.
The variety of skin lesions in TSC can sometimes require more specific medical management. The hypopigmented macules are often not very noticeable and usually do not require any specific treatment, although use of cosmetic creams can make them less conspicuous. However, facial angiofibromas can become quite extensive and bothersome.
Traditionally, laser therapy was frequently used for removal of these angiofibromas, but the angiofibromas would often recur, requiring repeated rounds of laser therapy. Fortunately, a newer treatment, involving a topical preparation of rapamycin, an mTOR inhibitor, appears very effective for facial angiofibromas.
Periungual fibromas can also be surgically removed, if they bleed or become painful.
Treatment may be required when tumors grow very large or cause functional impairment within organs.
In rare cases, cardiac rhabdomyomas may obstruct blood flow from the heart, potentially requiring surgical intervention, or may induce abnormal rhythms of the heart, requiring pacemaker placement or medications for arrhythmias.
If SEGAs within the brain start to obstruct spinal fluid flow, surgical removal of these tumors may be indicated.
If excessive kidney tumor growth starts to cause functional problems, such as hypertension or renal failure, surgical removal, or a less invasive procedure, called embolization, may be considered.
However, mTOR inhibitors have emerged as an effective medical treatment for SEGAs and kidney tumors, as well as lymphangioleiomyomatosis and potentially other tumors in TSC, which in many cases, may be preferable to surgery.
Educated decisions about potential treatment of TSC-related tumors are ideally made in conjunction with experienced specialists knowledgeable about TSC and the involved organs.
For patients with TSC who are essentially asymptomatic, little is required in terms of active management and treatment. However, even asymptomatic patients with TSC should receive periodic monitoring with radiological tests to ensure that there is no excessive tumor growth in at-risk organs.
In infants with documented cardiac rhabdomyomas, a cardiologist will often want to follow them for some time period, usually with serial echocardiograms.
A panel of TSC experts has also made general recommendations to perform a routine screening brain and renal MRI about once every one to three years, and more often if there are specific concerns.
Women with TSC should have an initial screening chest CT at age 18 to look for lung involvement. Judicious radiological screening may help prevent emergent situations from arising unexpectedly.
More details about other surveillance and management recommendations are contained within published guidelines.