Screenings for adults with tuberous sclerosis complex

The main guidance

The International TSC Consensus Group updated its surveillance and management recommendations in 2021. It says the changes from 2013 mainly put more weight on early screening for brain wave (EEG) changes, on surveillance of TSC-associated neuropsychiatric disorders (TAND), and on new medicine approvals. (International TSC Consensus, 2021) The UK guidelines, published in 2019, were agreed by about 51 UK TSC experts in a two-round survey. (UK TSC guidelines, 2019) A 2019 expert paper on coordinated TSC care sets out the surveillance for people already diagnosed, based on the international consensus and the UK guidelines, and says the timing should be tailored to the person and how much disease they have. (Annear et al, 2019) The intervals below come from that paper.

Checks the guidance lists

Check	When	Source
MRI of the abdomen (kidney angiomyolipomas and cysts)	Every 1 to 3 years, throughout life	(Annear et al, 2019)
Kidney function (including GFR) and blood pressure	At least once a year	(Annear et al, 2019)
Questions about breathlessness (LAM symptoms)	Every clinic visit, for people at risk of LAM	(Annear et al, 2019)
High-resolution chest CT	Baseline in women 18 and older; repeat every 5 to 10 years if no lung cysts; every 2 to 3 years if cysts are found	(Annear et al, 2019)
Breathing tests and 6-minute walk	Baseline when at risk of LAM; every year if lung cysts are found	(Annear et al, 2019)
Skin check	Every year	(Annear et al, 2019)
Dental check	At least every 6 months	(Annear et al, 2019)
Eye check	Every year if eye lesions or vision symptoms were found at the first check	(Annear et al, 2019)
ECG (heart rhythm)	Every 3 to 5 years without symptoms, all ages	(Annear et al, 2019)
Brain MRI	Every 1 to 3 years without symptoms up to age 25; later if a SEGA was seen in childhood	(Annear et al, 2019)
TAND screening (behaviour, mood, learning, sleep)	At least once a year, lifelong	(TAND consensus, 2023)

Kidney scans, kidney function and blood pressure

Kidney growths called angiomyolipomas occur in about 80% of people with TSC. The expert recommendations say an MRI of the abdomen every 1 to 3 years throughout the person's life to check how angiomyolipomas and kidney cysts change, and kidney function, including GFR, and blood pressure at least once a year. They say MRI is the best scan for the kidneys and that CT or ultrasound may be acceptable alternatives in some circumstances, and that some people with TSC may need the scan under general anaesthetic. (Annear et al, 2019) MedlinePlus says regular ultrasound checks of the kidneys are important to make sure there is no tumour growth. (MedlinePlus encyclopedia) The 2024 ERKNet and ERA kidney recommendations say careful monitoring of kidney function and imaging of kidney lesions allow early action that can preserve kidney function. (ERKNet and ERA, 2024) See kidney disease screening, kidney test results and blood pressure readings: what they mean.

Lung scans for women

MedlinePlus Genetics says the lung disease lymphangioleiomyomatosis (LAM) is found almost exclusively in women, occurs in about 30 percent of women with TSC, and most often shows signs in a woman's thirties. (MedlinePlus Genetics) MedlinePlus says many people with LAM have no symptoms, while others have shortness of breath, coughing blood or a collapsed lung. (MedlinePlus encyclopedia)

The expert recommendations say a baseline high-resolution chest CT and breathing tests, even without symptoms, for people at risk of LAM, typically women 18 and older, and testing for adult men if they have symptoms. They say to ask about breathlessness at every clinic visit, to repeat the CT every 5 to 10 years if the first scan showed no lung cysts, and, when cysts are found, to do breathing tests every year and a CT every 2 to 3 years. (Annear et al, 2019) Lung cancer screening with low-dose CT is a separate check; see low-dose CT lung scan: what to expect.

Skin, teeth, eyes and heart

The expert recommendations say a detailed skin check every year, a detailed dental check at least every 6 months, an eye check every year for people whose first eye exam found lesions or vision symptoms, and an ECG every 3 to 5 years in people of all ages without symptoms to look for heart rhythm problems. (Annear et al, 2019) MedlinePlus lists light patches, red patches on the face, patches of thick skin, growths around the nails, pitted tooth enamel, growths on the retina and abnormal heart rhythm among the signs of TSC. (MedlinePlus encyclopedia) See skin checks by age, eye exams by age and ECG at a checkup.

Brain scans, mood and behaviour

The expert recommendations say a brain MRI every 1 to 3 years in people without symptoms up to age 25, to look for a new brain growth called SEGA, and that people who had a SEGA without symptoms in childhood should keep having scans as adults to make sure it is not growing. They say a sudden change in behaviour should lead to a medical check for causes such as SEGA, seizures or kidney disease. (Annear et al, 2019) See screenings if you have epilepsy.

The 2023 international TAND consensus says everyone with TSC is at risk of TAND and needs lifelong monitoring, with screening at least once a year using a tool such as the TAND Checklist. It says mood and anxiety symptoms, which affect up to 56% of people with TSC and are more common in teenagers and adults, should be monitored in all children and adults with TSC, and that sleep problems should be monitored regularly. (TAND consensus, 2023) The USPSTF recommends depression screening for all adults. (USPSTF depression, 2023) See mental health screenings by age and depression screening: what to expect.

Checks for relatives

MedlinePlus says only one parent needs to pass on the gene change for a child to have TSC, that each child of a parent with TSC has a 50% chance of inheriting it, and that two-thirds of cases come from new gene changes with no family history. It says a parent with a mild case is sometimes found only after a child is diagnosed, and recommends genetic counselling for couples with a personal or family history of TSC who want to have children. (MedlinePlus encyclopedia) The expert recommendations say to offer genetic testing for family counselling. (Annear et al, 2019) See family history and screening.

Routine age-based screening

The USPSTF recommends blood pressure screening for all adults 18 and older (USPSTF blood pressure, 2021) and depression screening for all adults. (USPSTF depression, 2023) The other routine screenings for your age and sex still apply; see screenings by age and gender. Self-pay whole-body MRI for people without a condition like TSC is a different thing; see full-body MRI screening.

When to contact a provider

MedlinePlus, Tuberous sclerosis, when to contact a medical professional: (MedlinePlus encyclopedia)

Contact your health care provider if:

Either side of your family has a history of tuberous sclerosis
You notice symptoms of tuberous sclerosis in your child

Contact a genetic specialist if your child is diagnosed with a heart rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

Where they differ:

Kidney scan type. The expert recommendations call MRI the best kidney scan, with CT or ultrasound acceptable in some circumstances, (Annear et al, 2019) while MedlinePlus speaks of regular kidney ultrasound checks. (MedlinePlus encyclopedia)
Brain MRI interval. The same 2019 paper gives every 1 to 3 years up to age 25 in its surveillance table, and every 2 to 3 years for children and young adults in its list of clinic services. (Annear et al, 2019)
First chest CT. The surveillance table says a baseline CT in people at risk of LAM, typically women 18 and older, while the clinic services list says a CT at 18 to 21, particularly in women after puberty. (Annear et al, 2019)
Which version. The intervals above come from a 2019 paper based on the 2012 consensus and the 2019 UK guidelines. The 2021 international update says its changes were mainly about EEG screening, TAND and new medicines. (Annear et al, 2019)(International TSC Consensus, 2021)

Your doctor decides what your result means for you.

Questions people ask

How often should adults with TSC have kidney scans?

Expert recommendations based on the international consensus and the UK guidelines say an MRI of the abdomen every 1 to 3 years throughout life, to check angiomyolipomas and kidney cysts, and kidney function and blood pressure at least once a year. MRI is the preferred scan; CT or ultrasound may be acceptable in some circumstances. (Annear et al, 2019)

Why are kidney checks so important in TSC?

Kidney growths called angiomyolipomas occur in about 80% of people with TSC, and kidney disease is the leading cause of death in adults with TSC. The 2024 ERKNet and ERA kidney recommendations say careful monitoring of kidney function and imaging of kidney lesions allow early action that can preserve kidney function. (Annear et al, 2019) (ERKNet and ERA, 2024)

Do women with TSC need lung scans?

Yes, according to the expert recommendations: a baseline high-resolution chest CT and breathing tests for those at risk of LAM, typically women 18 and older, even without symptoms, with men tested if they have symptoms. If the first scan shows no lung cysts, it is repeated every 5 to 10 years. MedlinePlus Genetics says LAM occurs in about 30 percent of women with TSC. (Annear et al, 2019) (MedlinePlus Genetics)

Should adults with TSC be checked for mood and behaviour problems?

The 2023 international TAND consensus says everyone with TSC needs lifelong monitoring for TSC-associated neuropsychiatric disorders, with screening at least once a year, and that mood and anxiety should be monitored in all children and adults with TSC. The USPSTF also recommends depression screening for all adults. (TAND consensus, 2023) (USPSTF depression, 2023)

Do adults with TSC still need brain scans?

The expert recommendations say a brain MRI every 1 to 3 years for people with TSC without symptoms up to age 25, to look for a brain growth called SEGA, and that people who had a SEGA without symptoms in childhood should keep having scans as adults to make sure it is not growing. (Annear et al, 2019)