TSC Diagnostic Criteria
TSC can be diagnosed clinically by having a healthcare provider identify specific major and minor manifestations or “features” of the disease.
|MAJOR FEATURES||MINOR FEATURES|
|1. Hypomelanotic macules (≥3. at least 5·mm diameter)||1. “Confetti” skin lesions|
|2. Angiofibromas (≥3) or fibrous cephalic plaque||2. Dental enamel pits (>3)|
|3. Ungual fibromas (≥2)||3. Intraoral fibromas (≥2)|
|4. Shagreen patch||4. Retinal achromatic patch|
|5. Multiple retinal hamartomas||5. Multiple renal cysts|
|6. Cortical dysplasias*||6. Nonrenal hamartomas|
|7. Subependymal nodules|
|8. Subependymal giant cell astrocytoma|
|9. Cardiac rhabdomyoma|
|10. Lymphangioleiomyomatosis (LAM)**|
|11. Angiomyolipomas (≥2)**|
|Definite TSC: 2 major features or 1 major feature with 2 minor features
Possible TSC: Either 1 major feature or >2 minor features
2021 includes tubers and cerebral white matter radial migration lines
A combination of the 2 Major clinical features LAM and renal angiomyolipoma’s without other features does not meet criteria for a definite diagnosis.
Genetic Diagnosis: A pathogenic mutation in TSC1 or TSC2 is diagnostic for TSC. Pathogenic variant means that there is a confirmed genetic alteration in a gene that increases the likelihood an individual to develop symptoms associated with a certain disease.