TSC affects everyone differently

 

One of the reasons Tuberous Sclerosis is difficult to understand is because it is such a diverse condition. Every child is an individual and not every person affected by TSC will have all of the signs or symptoms. Symptoms of TSC are also seen in varying degrees in each child. Recent improvements in treatment of TSC and its symptoms (particularly in seizure control) mean that the outcome for babies born today is often better that in previous generations.

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There is currently no way to predict which individuals will be severely affected by the symptoms of TSC and which will be mildly affected. Lifelong surveillance and management of symptoms as they arise is very important.

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The signs and symptoms

of Tuberous Sclerosis Complex

The common features that are characteristic of TSC are listed below:

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Brain

Many different types of non-cancerous growths (tumours or lesions) may occur in the brain. About 50% of people with TSC have an IQ in the normal range. Individuals with TSC can have clinical features such as epilepsy (seizures), learning disabilities, intellectual impairment, autism spectrum disorders and sleep disorders. There is a wide range of severity of these symptoms.The neuro-psychiatric aspects of TSC are referred to as TAND – Tuberous Sclerosis Associate Neuro-psychiatric disorders.

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Infantile spasms are a common and potentially catastrophic seizure type in babies with TSC which can be hard to identify. Infantile spasms should be considered a medical emergency and prompt diagnosis and treatment in critical. This video shows part of a cluster of infantile spasms. Go to http://www.tsalliance.org/infantilespasms for more information on infantile spasms.

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Useful links:

Video of Dr Claire Spooner and Dr Melinda Nolan's TSC and Epilepsy Session at TSCNZ National Conference May 2023

Video of Dr Lisa Underwood's presentation on Managing TAND at the TSCNZ National Conference 2023.
Video of Neurology Session at the 2014 TSC Family Conference in Auckland
Video of Lisa Underwood, TSCNZ committee member's presentation on Understanding and Diagnosing TSC Associated Neuro-psychiatric Disorders (TAND) at the 2015 Australian Tuberous Sclerosis Conference

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Skin

Multiple white patches (hypopigmented macules) on the skin are often the first sign of TSC. Other skin rashes may develop with time, but none of these skin symptoms cause serious medical problems. Several New Zealanders are using Sirolimus cream to treat facial angiofibromas. Funding can be available through a prescribing doctor's application for

NPPA funding. Consumers may have to pay a small compounding fee. 

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Video of Tuberous Sclerosis and the Skin, including emerging treatments for facial angiofibromas from the 2014 TSC Family Conference in Auckland

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Heart

Rhabdomyomas are growths that occur in the heart muscle. These often do not cause any medical problems and generally shrink with age. Very occasionally, surgery is required if the growth is blocking blood flow.

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Kidneys

Cysts and growths can occur in the kidneys. The most common type of kidney (renal) growth is called an angiomyolipoma or AML. These can sometimes cause kidney problems and there is a slightly increased risk of kidney cancer in people with TSC. A very small number of people also have another renal condition, called polycystic kidney disease as well as TSC.

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Video of Dr Murray Leikis and Dr Leila Arnold's presentation on TSC and the Kidneys and Transitiion to Adult Services at the TSCNZ National Conference 2023

Video of Tuberous Sclerosis Complex and the Kidneys at 2014 TSC Family Conference in Auckland

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Lungs

Cysts can occur in the lungs. This is called lymphangioleiomyomatosis (LAM) of the lung. LAM may not cause any problems or may cause shortness of breath requiring medical attention. LAM affects about 30% of women with TSC, and is seen only very rarely in men.

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Eyes

Benign tumours called harmatomas can occur at the back of the eye (retina). These generally do not affect vision.

 

Surveillance and Management

of Tuberous Sclerosis Complex

 

There is no cure yet for TSC, but the symptoms can be treated or managed. Regular surveillance to look for symptoms and early treatment are associated with better health and quality of life for people with TSC.

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In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC criteria for diagnosis, surveillance and management published in 2013. You can read more about the diagnostic criteria and surveillance recommendations here at Tuberous Sclerosis Australia's website.

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For individuals who are not healthcare professionals, below is a brief summary of the consensus recommendations for monitoring individuals with TSC. The updated diagnostic criteria for TSC is available here. You can also get a printable pdf of both the diagnostic criteria and the surveillance and management guidelines by clicking here.

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View this talk on The Updated International TSC Surveillance and Management Guidelines by Dr Darcey Krueger at Tuberous Sclerosis Australia's event in 2021 for more information about surveillance and management of TSC.

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Genetics of Tuberous

Sclerosis Complex

TSC is genetic but not necessarily inherited from a parent. In about 70% of cases TSC has come as the result of a new genetic mutation, and no one else in the family is affected. It may be important for parents or siblings to find out whether they also have the TSC gene because anyone with the gene has a 1 in 2 chance of passing it on to their children. Genetic counselling is recommended for all families with TSC. In New Zealand, genetic counselling is provided by the Genetic Health Service.

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Video of Dr Juliet Taylor's TSC and Genetics at the TSCNZ National Conference 2023

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This video from the 2015 Australian Tuberous Sclerosis Conference provides a thorough explanation of the genetics of TSC and reproductive options available.

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Need to know more?

We recommend these websites for more in-depth information about TSC symptoms and treatments:

Tuberous Sclerosis Australia

Tuberous Sclerosis Alliance (USA)

Tuberous Sclerosis Association (UK)

Tuberous Sclerosis Complex International

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