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COVID-19 guidance for people living with TSC

About Tuberous Sclerosis Complex (TSC):

Every month, 10 babies are born in the UK with TSC.  An estimated 1 million people world-wide have TSC.  Some will be diagnosed with TSC very early in life whilst others may not be diagnosed until later childhood, adolescence or adulthood.  TSC can vary in the extent to which it affects individuals – most people with TSC do not have all of the features associated with a ‘classical’ presentation.

What is TSC? 

TSC is a genetic condition that can lead to growths in various organs of the body, but those most commonly affected are the brain, eyes, heart, kidney, skin and lungs. These growths may also be referred to as tumours but they are not cancerous.  When they cause problems it is mainly because of their size and where they are in the body. TSC growths have different names depending on which organ they are found in. These growths can result in a range of associated complications, including epilepsy, learning disabilities, behavioural problems – including hyperactivity or an autistic spectrum disorder, skin abnormalities – (ash leaf spots, fibroadenomas and shagreen patches, chronic kidney disease (CKD), breathing difficulties, the build-up of fluid on the brain (hydrocephalus), and/or bleeding from the growing tumours themselves particularly tumours in the kidney, termed angiomyolipomas (AMLs).

TSC is present from birth, although presentation may be much later in life.  It is estimated that around 1 in every 6,000 babies are born with the condition.  A mutation in either the TSC1 or TSC2 genes is implicated in around 80% of cases.  Although it is an autosomal dominant condition, only 25% of cases appear to be traceable from a parent to an affected child. In the remaining 75% of cases, development of TSC appears to be due to a de novo mutation.

The impact of TSC varies considerably, with some people being relatively mildly affected (they may not even know they have TSC) and others being more significantly affected. This impact may be evident in the early years, or not until adulthood. Thanks to research findings and with improved medical care, people with TSC can expect to live healthier lives with a normal life expectancy, in most cases.

Treatments for TSC

Different interventions may be appropriate for tumours caused by TSC, including surgical, radiological and pharmacological options.

Therapeutic options for any patient are carefully evaluated and patients and their families are counselled carefully about their options as part of our service.

TSC Clinics at St George’s Hospital

The multi-systemic nature of TSC necessitates the involvement of a multi-disciplinary team of Consultants, specialist nurses and counsellors from diverse specialities including Clinical Genetics, Renal Medicine, Urology, Interventional Radiology, Neurology, Paediatrics, Chest medicine, Dermatology, Psychiatry and Learning Disability.

We communicate regularly to discuss interesting cases and the most appropriate management.

TSC-Genetics Clinic

(Monthly, 2nd Monday of each month, Suite 2, Outpatients Department, Queen Mary’s Hospital, Roehampton)

The TSC-Genetics specialist clinic at St George’s Hospital has been running since 1993 initially as one of two National referral centres, which has been at the forefront of research into treating the condition.  The clinic is run by Dr Frances Elmslie (Consultant Geneticist), Dr Chris Kingswood (Consultant Nephrologist and Medical Advisor to the UK Tuberous Sclerosis Association), Dr Nicholas Annear (Consultant Nephrologist), our TSC Clinical Nurse Specialist, Lydia Israel, and our Genetic Counsellor, Ginny Attard. The clinic now forms one of the seven regional referral centres, recognised nationally by NHS England and approved to prescribe Everolimus in TSC since June 2016.

TSC-Genetics Clinic lead: Frances Elmslie

TSC-Renal Clinic

(Monthly, 4th Friday of each month, Neurology Outpatients, Ground Floor AMW)

A new monthly TSC-Renal clinic has been set up to more closely monitor patients who are commenced on Everolimus for side-effects and complications.  The clinic is led by Dr Chris Kingswood and Dr Nicholas Annear.  Dr Kingswood is the world’s leading expert in the treatment of renal TSC in children, and is a also a respected world voice on treatment in adults; he has led several studies and co-authored several publications in this field, notably Exist-1, Exist-2, and several review articles.  He has also co-led an International renal group in considering International guidelines for this indication in children.  Blood tests and serial imaging using MRI/CT/Ultrasound (where necessary on the general anaesthetic MRI list) frequently form part of the diagnostic and monitoring process.

TSC-Renal Clinic leads: Dr Nicholas Annear, Consultant Nephrologist / Dr Chris Kingswood, Consultant Nephrologist

Contact us:

Ms Lydia Israel
TSC Clinical Nurse Specialist
Tel: 020 8725 1688

Ms Ginny Attard
TSC Genetic Counsellor
Tel: 020 8725 0334

TSC-Genetics Secretary

Jesitha Sivanathan
Tel: 020 8725 0572

TSC-Renal Secretary
Abiola Banjo
Tel: 020 8725 2890

New referrals to:
email: TSCreferrals@stgeorges.nhs.uk
Fax: 020 8725 3444

 TSC Clinic
SW Thames Regional Genetics Service
St George’s University of London
Cranmer Terrace
SW17 0RE

Patient Information and Support:

The Tuberous Sclerosis Association (TSA) provides an excellent resource for patient information and support: http://www.tuberous-sclerosis.org/