Tuberous sclerosis

Also called TSC, Tuberous sclerosis complex

A genetic condition causing benign tumours in many organs. Epilepsy and behaviour are usually what shapes the life.

What it is

Tuberous sclerosis complex causes benign tumours to grow in the brain, kidneys, heart, skin, eyes and lungs. It affects around 1 in 6,000 births.

The name comes from potato-like growths in the brain, and those growths are why epilepsy affects the large majority of people with TSC, often starting in infancy.

Around half have a learning disability, and a similar proportion are autistic. Collectively the neuropsychiatric features are called TAND, and they are the aspect families consistently rate as having the greatest impact, and the aspect most often not asked about.

Kidney involvement is the leading cause of death in adults with TSC, and it is silent until it is not.

Signs you might notice

Seizures, often infantile spasms in the first year, which need urgent treatment.

Skin signs: pale patches, facial angiofibromas, a rough patch on the lower back, fibrous plaques.

Developmental delay, learning disability, autism, ADHD and behavioural difficulty.

Kidney angiomyolipomas, which can bleed suddenly and severely.

Lung involvement in some women, causing breathlessness.

How it can affect day-to-day life

Surveillance is the whole of good TSC care, and it is often incomplete. Kidney imaging, brain imaging, blood pressure, skin and eye review, and TAND screening all have recommended intervals.

Infantile spasms are a neurological emergency. Treated quickly, developmental outcomes are better; treated late, they are worse. Any infant with jerking spasms in clusters needs same-day assessment.

TAND is the piece most often left out. Families are asked about seizures and never about behaviour, sleep, anxiety or learning.

Supporting someone well

Keep the surveillance schedule. Ask when the next kidney scan is due and diary it yourself.

Recognise infantile spasms and treat them as an emergency.

Ask for TAND screening by name at every review. There is a standard checklist and it takes minutes.

Ask about mTOR inhibitors, which treat the tumours themselves and can also help seizures.

Manage epilepsy carefully, with exact medication timing and a seizure record.

Fiducia Guardian holds the surveillance schedule, the seizure record and the whole multi-speciality team in one place, which in a condition with six specialities involved is what keeps a scan from being missed.

Where to get help

Ask for care from a specialist TSC clinic. They exist and referral is worth pushing for.

Tuberous Sclerosis Association run a helpline and specialist advisers.

Sudden severe abdominal or flank pain in somebody with TSC may be a bleeding kidney tumour and is an emergency.