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 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 TSA Nurse on 1300 733 435 (Australia only).
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.
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What does research tell us about life expectancy of people living with 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. There are two large-scale registries operating for data collection relating to TSC:
- The Natural History Database, managed by the TSC Alliance in the USA. Since 2010, thirteen peer-reviewed journal articles have been published from data provided to the Natural History Database by people with TSC https://www.tscalliance.org/researchers/natural-history-database/
- TuberOus SClerosis registry to increase disease Awareness (TOSCA), an international disease registry designed to address knowledge gaps in the diagnosis, presentation and management of TSC. It is the largest clinical case study of TSC to date. https://toolbox.eupati.eu/resources/patients-involved-patient-organisations-input-on-a-rare-disease-registry/
- Other studies examine medical records to report on the health of people with TSC. For example, a 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?
- Surveillance is critical. Lifelong surveillance applies to every person living with TSC and can protect the person’s health and 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.
- Testing enables early detection of new signs of TSC and the ability to make informed decisions on when treatment is required.
- The symptoms of TSC vary over a person’s lifetime. 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.
- 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.
- New approaches to managing TSC can make a big difference for many people.
- 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.
Achievements in TSC research and health care mean that people with TSC have every reason to expect to live a long life. These achievements 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 critical to minimise the risks of early death in TSC.
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. Heart Brain Epilepsy Kidneys Lungs Other causes of 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.
Other causes of death