This article is dedicated to all the members of the TSC community who are no longer with us. The TSA team continue our work to improve the lives of people with TSC and offer a hopeful future inspired by your lives and the strength of you and your families.
This information page may cause you to feel sad or worried about the future for you or the person you know with TSC. Consider when might be the right time for you to read this is. If you would like to talk to someone about this topic, you can call the TSC Information Service on 1300 733 435.
This can be one of the first questions that people have when they hear about tuberous sclerosis complex (TSC) for the first time. It remains, however, a difficult question to answer for several reasons:
- There has not been enough long term research done to understand life expectancy and causes of early death.
- TSC affects each individual differently throughout their life, even members of the same family.
- New ways of managing TSC are likely to reduce risks of early death, making it even more difficult to estimate life expectancy of a baby born today with TSC.
This article provides general information about life expectancy and risks for early death in TSC. Like everything related to TSC, each person is an individual. You should discuss questions you have with your health professionals.
- Most people with TSC have a normal life expectancy.
- Research does not provide a definitive answer on life expectancy.
- TSC affects people in very different ways. Some people with TSC will have more life threatening signs and symptoms of TSC than others.
- New treatment options are available for many of the life threatening signs and symptoms of TSC.
- Regular lifelong surveillance can find early signs of TSC and allow for earlier treatment.
What does research tell us about life expectancy in TSC?
There are different types of studies that can tell us something about life expectancy. Some studies follow groups of patients for a long period of time, usually through a data registry. In TSC there are two registries: the natural history database run from the USA; and TOSCA, run from Europe. Neither of these registries has reported an overall estimation of life expectancy because they have not yet followed large numbers of patients for long enough.
Other studies examine medical records to report on the health of people with TSC. For example, a recent study in the UK examined the medical records of 334 people with TSC over 15 years . This found that 5% of the TSC group had died, with an average age of 57 years. However there were only small numbers of older people with TSC in the study group.
A much older study, from the Mayo Clinic in 1991, examined records from their 355 patients with TSC. Of the 40 people who died from causes related to their TSC, the most common causes were kidney disease and brain tumours. Other causes included LAM, status epilepticus and pneumonia .
These studies are limited because they report on only a small group of people with TSC. Often these groups are those attending a specialist TSC clinic and are likely to be those more severely affected by signs and symptoms of TSC.
The research that has been done on TSC does not provide us with an accurate estimation of life expectancy. We hope that the long term data collection being done by TOSCA and the natural history database may provide answers to this question in the future.
What can be done to reduce the risk of early death?
Lifelong surveillance is the one overarching strategy that applies to each person with TSC. This can protect the person’s health and also reduce the chances of early death.
The guidelines for surveillance and management of TSC describe the recommended tests for each stage of life with TSC, including at diagnosis, in childhood and adulthood. The aim of this testing is the early detection of new signs of TSC and the ability to make informed decisions on when treatment is required. The next wave of clinical trials for TSC treatments will involve testing the potential benefits of earlier treatments and it is likely that new ways to treat TSC in the future will involve treating signs of TSC before they cause problems.
One of the challenges of TSC is how differently it affects people. This concept applies to comparing between two individuals – one who might be considered more mildly affected by the signs and symptoms of TSC to another who might be considered to have more severe impacts of TSC on their life and health. This variation can even occur between two individuals in the same family. This concept also applies to the same individual in different stages of their life: mild symptoms of TSC in childhood does not guarantee mild symptoms of TSC as an adult. For example, a person may not experience epilepsy or developmental delay as a child, but may develop severe kidney or lung disease as an adult. This is another reason that lifelong surveillance is important.
For the specific signs and symptoms of TSC that can lead to early death, it is important that health professionals are aware of new treatment approaches for these signs and symptoms of TSC. New mTOR inhibitor medicines are now available to treat many signs and symptoms of TSC. Surgery techniques for both brain and kidney surgeries have also improved significantly.
In the past, many doctors have told people with TSC that there was nothing that could be done to change the way TSC affected them. This is incorrect and we know that new approaches to managing TSC can make a big difference for many people.
Which signs and symptoms of TSC can cause early death?
Because research is lacking, there is no full list of the causes of early death in people with TSC. This list highlights some of the most common causes of early death and what medical research knows about how common these are. The list ordered by the age at which these signs and symptoms of TSC are most common.
- The heart tumours caused by TSC, called rhabdomyomas, are becoming the most common first sign of TSC to be detected often in unborn babies. Understandably, this can sound like a very serious and life threatening issue for a newborn baby, but we know that for most babies with TSC these heart tumours are not life threatening.
One study in Italy followed 33 babies with rhabdomyomas. Ninety-three percent of these babies also had TSC . In four cases (12%) there were serious complications and one (3%) baby died as a result of the rhabdomyoma. For the remainder of babies, the tumours shrank and heart rhythms returned to normal. Other studies have shown that heart tumours can grow or even appear for the first time later in life, but only in a minority of people with TSC .
- Subependymal giant cell astrocytomas (SEGAs) grow in approximately 10% of people with TSC. These tumours can cause the fluid in the brain to be blocked, a condition called hydrocephalus.
We don’t know how many people with TSC have life-threatening SEGAs, but we do know that, if left untreated, SEGAs can lead to early death. If SEGAs are found before they cause symptoms, treatment with either surgery or medicine is possible .
- People with TSC are more likely to have epilepsy that is difficult to control. This means they are at greater risk of epilepsy related death, either from injuries or sudden unexpected death in epilepsy (SUDEP).
People living with seizures are at risk of accidents and injuries such as falling, drowning and burns when they have seizures.
As a group, people living with seizures are at a 1 in 1000 risk of SUDEP per year, although the risk is lower in children . Each individual with epilepsy will have a different risk depending on their seizure types, frequency of seizures and other factors. You can discuss the risk of SUDEP with your neurologist.
The best way to reduce risk of SUDEP is by improving seizure control. Some people with epilepsy use monitoring devices to detect night time seizures.
It is also important to manage the risk of status epilepticus, which is a prolonged seizure or cluster of seizures. Emergency seizure medication and training in seizure first aid are important to minimise this risk.
- Kidney angiomyolipomas (AMLs) can cause life threatening complications. Large kidney AMLs can bleed and, over time, can contribute to kidney failure.
A study in the Netherlands reported on 22 years of health records of 351 people with TSC and kidney AMLs . It found that the people in the study were five times more likely to die during that period than a person of the same age in the general population. The leading causes of death were kidney complications, cancer and epilepsy. The kidney related causes of death were kidney failure when dialysis was not appropriate, complications from kidney embolisation and bleeding from kidney AMLs. One European study estimated that around 1% of adults without intellectual disability experienced end stage kidney disease .
In addition to kidney AMLs, between two and five percent of people with TSC also have polycystic kidney disease. This condition usually leads to impaired kidney function in young adulthood and this will require treatment through dialysis and/or transplant.
- People with TSC, particularly women, are at risk of developing lymphangioleiomyomatosis (LAM). When a person has LAM their lungs can gradually stop being able to get oxygen into their bloodstream. If this is not treated, the lungs can collapse and lung transplantation may be required.
Even though the majority of women with TSC will develop LAM during their life, research suggests that a much smaller number will ever show any symptoms.
New treatments are available for LAM that can stop it from progressing. Once LAM is found in the lungs of people with TSC, a lung physician can develop a surveillance and management plan.
Some people with TSC also have an intellectual disability (ID). Recent Australian research found that people with intellectual disability are at higher risk of avoidable death . No research has been done to fully understand the reason for this. One reason for this may be that health services can be difficult to access for people with intellectual disability and those who need assistance to communicate. Other reasons could include higher rates of obesity and other risk factors for common conditions such as heart disease.
Scheduling regular appointments with your GP for health checks, vaccinations, prostate checks, pap smears and weight management may reduce this risk.
Achievements in the last 20 years of TSC research and health care mean that people with TSC have every reason to expect to live a long life. These include earlier diagnosis of TSC through prenatal testing, improved seizure control and new medicines for TSC signs and symptoms. Regular surveillance and active management of the various signs and symptoms of TSC are important to minimise the risks of early death in TSC.
Written by: Clare Stuart, Tuberous Sclerosis Australia
Medical review by Dr Chirag Patel, Clinical Geneticist, Genetic Health Queensland
Edited by: Teresa Llewellyn-Evans
TSC community review by: Debbie and Anthony Crosby and Hayley Hill
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