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Tuberous Sclerosis Complex (TSC)

Name of disease:

Tuberous Sclerosis Complex (TSC)

ICD-10 diagnosis code:

Q85.1

Causes:

Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by an alteration (mutation) in one of two different genes, the TSC1 gene or the TSC2 gene, which causes tumors to grow in many different organs of the body. Tumors grow most often in the brain, eyes, heart, kidneys, skin, lungs, etc. If tumors are formed in the brain, it will cause frequent seizures and cognitive decline in patients.

Mode of inheritance:

About 67% de novo mutation About 33% inherited from parents in an autosomal dominant pattern

Prevalence:

USA: 1 / 6,000 Europe: 1 / 11,300 – 25,000 As many as 2 million people worldwide are believed to have the disorder

Diagnosis:

Clinical symptoms and signs A detailed patient and family history Molecular genetic test

Age of onset:

Infant stage

Common signs and symptoms:

Seizures Facial angiofibroma or forehead plaque Non-traumatic ungual or periungual fibroma Hypomelanotic macules, more than 3 Shagreen patches Multiple retinal nodular hamartomas Cortical tuber Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma, single or multiple Lymphangiomyomatosis Renal angiomyolipoma Intellectual disability Autistic-like behaviour

Available treatments (medicinal and non-medicinal):

Currently there is no cure to this disease, treatment generally focuses on the specific signs and symptoms present in each individual. For example: Antiepileptic medications to treat and control seizures Laser surgery and topical creams to reduce the appearance of some of the skin lesions. Surgical procedures to remove tumors and help preserve the function of affected organs

Disease management tips:

Many of the complications of TSC can be managed more effectively if they are treated early. Behavioral therapy and alternative educational approaches can be very helpful to children with developmental disorders. Try to eat more foods that are rich in provitamin A, vitamin E and carotene, e.g. peas, sunflower seeds, carrots, etc., to boost skin health. Avoid consuming alcohol and any salty, greasy, spicy or irritating foods. Avoid exposure to strong UV light.

References:

https://www.derc.org.hk/en/news-detail.php?id=163 https://www.derc.org.hk/en/news-detail.php?id=739 http://www.tfrd.org.tw/tfrd/rare_b/view/id/69 https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex/#inheritance https://rarediseases.org/rare-diseases/tuberous-sclerosis https://www.childrenshospital.org/conditions-and-treatments/conditions/t/tuberous-sclerosis-tsc/treatments https://kknews.cc/zh-hk/health/eaqrbbz.html

Other useful websites:

More about the disease: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet Patient groups:https://tscahk.org (Tuberous Sclerosis Complex Association of Hong Kong)https://www.tsalliance.org (TS Alliance – in USA)