What is it?
A rare genetic condition characterised by non-cancerous (benign) tumour development all over the body. These tumours primarily appear to affect the skin, brain, kidneys, lungs and eyes. A person is born with tuberous sclerosis (TSC), so the condition does not develop over time and is not contagious, however, in some people symptoms do not appear until later in life. Around 1 million people are affected by TSC worldwide and the age of diagnosis varies greatly, as does its impact and symptom severity. Some people with TSC may never even realise they have the condition and may have very few problems with it whilst others may be diagnosed from birth and need frequent specialist care. Some common problems that arise from TSC include autism, learning difficulties, epilepsy and kidney problems.
What causes it?
TSC is inherited in an autosomal dominant pattern meaning only one faulty gene is needed to be inherited from either parent for the disease to be expressed. People with TSC thus have a 50% chance of passing it down to each of their children. However, 2 out of 3 people with TSC have a ‘spontaneous mutation’ meaning they are the first person in their family to have this gene mutation and have not inherited it (although they may then still pass it on to their children).
How is it diagnosed?
Diagnosis can involve a mixture of clinical signs and symptoms, physical examination, imaging and blood tests.
Clinical diagnosis may occur with the following common issues:
- A child not hitting their developmental milestones
- Infantile spasms
- Skin lesions known as ‘ash leaf marks’ or ‘shagreen patches’
- A discovery of heart tumours antenatally or in newborns
Imaging:
- MRI and CT scans of the brain can be used to visualise tumours
- Ultrasounds of the kidneys
- Heart echo’s
Genetic tests:
A blood test can be used to check for mutations in TSC1 or TSC2 genes. If a mutation is found it confirms the diagnosis however even if no mutation is found, a clinical diagnosis can still be made.
Can it be treated?
Whilst there is no cure for TSC, there are various ways of managing it. Up to 90% of patients experience seizure, so antiepileptics can be given. Regular kidney and heart check should be done to check for any disease manifestations. Some medications are also available to reduce tumour size.
What is the Tuberous Sclerosis Rare Diseases Collaborative Network (RDCN)?
Rare disease collaborative networks (RDCNs) are initiatives formed by NHS England and NHS Improvement to improve the care, diagnosis, and treatment of individuals affected by rare diseases, including TSC.
The Tuberous Sclerosis Complex Clinical Network is comprised of several different hospitals including Manchester University NHS Foundation Trust, with its lead at St George’s University Hospitals NHS Foundation Trust. Other foundation trusts include Liverpool, Sheffield, Cambridge and Belfast. The network is dedicated to advancing research in TSC, aiming to improve understanding, diagnosis, and treatment of the condition. This includes establishing disease registries, promoting clinical trials, and facilitating the sharing of expertise and best practices among healthcare professionals.
For more information or to get involved, you can contact the NHS England Rare Disease Collaborative Networks team at england.rdcns@nhs.net.
Credits:
Alya Howard – University of Manchester 5th year medical student