Tuberous Sclerosis Complex (TSC) affects hundreds of individuals in New Zealand and thousands more carers, families and friends who live with the impact of the disease.
TSC tumours can grow in any organ of the body, commonly affecting the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy, developmental delay and autism. There is no known cure for TSC, but with appropriate support most people with TSC can live fulfilling lives.
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.
There is currently no way to predict which individuals will be severely affected by the symptoms of TSC and which will be only mildly affected.
The signs and symptoms of Tuberous Sclerosis Complex
The common features that are characteristic of TSC are listed below:
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.
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.
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
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.
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.
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.
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.
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.
TSCNZ has published a brochure of the surveillance and management guidelines recommended by the 2012 International Tuberous Sclerosis Complex Consensus Conference.
View this talk by Dr David Mowatt at the 2014 New Zealand TSC Family Conference for more information about surveillance and management of TSC.
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.
This video from the 2015 Australian Tuberous Sclerosis Conference provides a thorough explanation of the genetics of TSC and reproductive options available.
Need to know more?
We recommend these websites for more in-depth information about TSC symptoms and treatments