Screening and diagnosis

Classification and risk stratification

Perioperative care

Quality improvement

Patient education

Nonpharmacologic interventions

Therapeutic procedures

Respiratory support

Follow-up and surveillance

Specific circumstances

Preventative measures

Medical management

Surgical interventions

Inpatient care

Diagnostic procedures

Diagnostic investigations

Insufficient evidence to make a recommendation.

Strongly favor this test or intervention.

The tool evaluates whether a person meets the diagnostic criteria for Tuberous Sclerosis Complex (TSC) based on specific clinical characteristics and genetic findings. It uses inputs reflecting the presence or absence of distinctive features associated with TSC, yielding either an affirmative (true) or negative (false) response for each feature.

Each feature has an assigned score indicating its weight in the overall diagnostic evaluation:

- **10 Points for Major Features**:
  - Presence of hypomelanotic macules (3 or more, each at least 5 mm in diameter).
  - At least 3 angiofibromas or a fibrous cephalic plaque.
  - Two or more ungual fibromas.
  - Shagreen patches.
  - Multiple retinal hamartomas.
  - Cortical dysplasias.
  - Subependymal nodules.
  - Subependymal giant cell astrocytoma.
  - Cardiac rhabdomyoma.
  - Lymphangioleiomyomatosis.
  - At least 2 angiomyolipomas.

- **1 Point for Minor Features**:
  - Confetti skin lesions.
  - More than 3 dental enamel pits.
  - Two or more intraoral fibromas.
  - Retinal achromic patch.
  - Multiple renal cysts.
  - Nonrenal hamartomas.

- **120 Points for Genetic Confirmation**:
  - Presence of pathogenic mutations in TSC1 or TSC2 genes.

By summing the scores assigned to the affirmative inputs, the tool calculates a total score, which is then interpreted as follows:

- A score of **120 or more** indicates "Meets criteria for definite TSC," achievable through a confirmed genetic mutation in TSC1 or TSC2.
- A score of **12 or more** without needing genetic confirmation also means "Meets criteria for definite TSC," relying on a combination of major features.
- A score ranging from **2 to 11** suggests "Meets criteria for possible TSC," indicating some clinical evidence of TSC but not enough for a definite diagnosis.
- A score of **1 or less** results in "Diagnostic criteria are not met," suggesting limited or no evidence for the condition.

The calculator, thus, quantifies the diagnostic likelihood of TSC, providing an interpretation that guides further medical evaluation or confirmation.

The calculator in question is the International Tuberous Sclerosis Complex Consensus Group's (ITS) diagnostic criteria for tuberous sclerosis complex (TSC). This calculator is used in the diagnosis of TSC, a genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. The ITS diagnostic criteria are applicable to individuals of all ages, from infants to adults, who are suspected of having TSC.

The clinical utility of this calculator lies in its ability to guide clinicians in diagnosing TSC based on a combination of major and minor features that are characteristic of the disease. These features include various skin abnormalities, neurological symptoms, and the presence of tumors in organs such as the brain, kidneys, heart, lungs, and eyes.

There are no specific exclusion criteria for the use of the ITS diagnostic criteria for TSC. However, it should be noted that the presence of one or more of these features does not definitively confirm a diagnosis of TSC, and genetic testing may be necessary for a definitive diagnosis. The ITS diagnostic criteria should therefore be used in conjunction with other diagnostic tools and clinical judgement.

ITS diagnostic criteria for tuberous sclerosis complex

Pulmonary lymphangioleiomyomatosis

Management of pneumothorax

Pulmonary rehabilitation

Lung transplantation

mTOR inhibitors

Chest imaging

Management of osteoporosis

General counseling

Genetic testing

Assessment of disease progression

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Histopathology

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Doxycycline

Counseling on air travel

Hormone therapy

History and physical examination

Inhaled bronchodilators

Patients with renal angiomyolipoma

Indications for screening

Post-transplant management

Routine immunizations

Management of chylothorax

Pregnant patients

Screening for pulmonary hypertension

Brain imaging

Serum VEGF-D

Screening for osteoporosis

Pulmonary function tests

Blood gas analysis

Lung biopsy

Pulmonary lymphangioleiomyomatosis

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