In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC diagnostic criteria published in 2013. Clinical features of TSC and genetic testing provide two ways of obtaining a diagnosis of TSC.
The clinical and genetic diagnostic criteria of 2021 are summarized below.
You can also get a printable pdf of both the diagnostic criteria and the surveillance and management guidelines by clicking here.
1. Clinical Criteria
A definite diagnosis of Tuberous Sclerosis will be made when an individual has either: 2 major features; or 1 major feature with 2 minor features.
**A combination of the two major clinical features Lymphangioleiomyomatosis (LAM) and Angiomyolipomas without other features does not meet criteria for a Definite Diagnosis.
A possible diagnosis of Tuberous Sclerosis will be made when an individual has either: 1 major feature; or 1 major and 1 minor feature; or more than 2 minor features.
- Angiofibromas (3 or more) or forehead plaque
- Hypomelanotic macules (3 or more at least 5 mm diameter)
- Ungual fibromas (2 or more)
- Shagreen patch
- Multiple retinal hamartomas
- Multiple cortical tubers and/or radial migration lines. This includes tubers and cerebral white matter radial migration lines.
- Subependymal nodule(s) (2 or more)
- Subependymal giant cell astrocytoma(s)
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis (LAM)**
- Angiomyolipomas (2 or more)**
- Dental enamel pits (more than 3)
- Intraoral fibromas (2 or more)
- Nonrenal hamartomas
- Retinal achromic patch
- “Confetti” skin lesions
- Multiple renal cysts
- Sclerotic bone lesions
2. Genetic Testing Criteria
- Either a TSC1 or TSC2 pathogenic mutation is sufficient to make a Definite Diagnosis of TSC. A pathogenic mutation is defined as a sequence variant that clearly prevents TSC1 or TSC2 protein production. Additionally, some mutations compatible with protein production (e.g., some missense changes) are well established as disease-causing and as sufficient to make a Definite Diagnosis of TSC. Other variants should be considered with caution.
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