Early diagnosis and monitoring can make all the difference for patients with TSC-associated seizures

Epilepsy impacts most patients with TSC, and may often have devastating consequences1-4

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Epilepsy affects 70% to 90% of patients with TSC. After just one seizure, patients with TSC have a nearly 100% chance of developing recurring seizures1-3

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A greater likelihood of developmental disabilities is correlated with epileptic spasms, a history of seizures, greater seizure frequency, earlier seizure onset, and pharmacoresistant epilepsy3,5

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Approximately 90% of patients with TSC are affected by TSC-associated neuropsychiatric disorders (TAND), which may include behavioral difficulties, psychiatric disorders, and variations in intellectual ability6,7

With multiple neurological and clinically observable symptoms, such as refractory epilepsy, a diagnosis of TSC can start in your office8

Many patients with TSC present early with neurological signs and symptoms, including refractory epilepsy. Guidelines recommend that parents should be educated to recognize TSC-associated seizures, which can be highly variable3,9-12

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Initial events may often begin as subtle EEG changes or seizures, which may easily be overlooked by parents2,13,14
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  • Partial-onset seizures, also known as focal seizures, are likely to be encountered in over 2/3 of patients during infancy12

    • Partial-onset seizures can be seen with or without impairment of awareness or can progress to generalized seizures15

  • Infantile spasms may occur in 39% to 47% of patients12
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Patients will likely progress to more than one seizure type, including12,16:

  • Partial-onset seizures

  • Atonic

  • Tonic

  • Clonic

  • Tonic-clonic
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  • Despite an often early presentation, it is not uncommon for patients to receive a diagnosis of TSC in adolescence or adulthood3,9
     
  • 12% of patients with TSC may develop seizures in adulthood3,5

Experts recommend obtaining a baseline EEG and monitoring in all patients with a TSC diagnosis, even in the absence of recognized or reported clinical seizures11,14

Diagnosing TSC is achievable through several observable diagnostic criteria8

A definite diagnosis of TSC requires 2 major features or 1 major feature with 2 minor features.
A possible diagnosis of TSC may be made with either 1 major feature or ≥2 minor features.
 

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Central nervous system

  • Multiple cortical tubers and/or radial migration lines
  • Subependymal nodules (SEN) (≥2)
  • Subependymal giant cell astrocytoma (SEGA)

Eyes

  • Multiple retinal hamartomas

Renal

  • Angiomyolipomas (≥2)*

Skin

  • Hypomelanotic macules (≥3, at least 5 mm in diameter)
  • Angiofibromas (≥3) or fibrous cephalic plaque
  • Ungual fibromas (≥2)
  • Shagreen patch

Heart

  • Cardiac rhabdomyoma

Lungs

  • Lymphangioleiomyomatosis (LAM)*

*A combination of the LAM and angiomyolipomas without other features does not meet criteria for a definite diagnosis.

Skin and teeth

  • Confetti skin lesions
  • Dental enamel pits (≥3)
  • Intraoral fibromas (≥2)

Eyes

  • Retinal achromic patch

Renal

  • Multiple renal cysts

Endocrine

  • Nonrenal hamartomas

Skeletal

  • Sclerotic bone lesions

Consider confirming a TSC diagnosis through genetic testing identifying a TSC1 or TSC2 pathogenic mutation8

Treatment considerations for TSC-associated seizures


Despite trial of multiple AEDs, many patients with TSC may continue to experience refractory seizures12,17

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After one AED, 64% of patients will eventually initiate 3 or more AEDs in search of seizure reductions—and 35% try 5 or more for their TSC-associated epilepsy17

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More than 1 in 3 patients who have surgery for their epilepsy will undergo multiple procedures17

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In a large TSC study,
partial-onset seizures remained uncontrolled in
38% of patients12

Have your patients with TSC been waiting for a different kind of option for their TSC-associated seizures?