1. The role of the specialist TS clinic
Prof Patrick Morrison
30th June 2017

2. Historical aspects
TS was described by Bourneville in 1880*, who recognised the white tubers and areas of sclerosis in the brain
Descriptions were added by Pringle
Vogt noted cardiac and renal disease in 1908, and described a triad of learning difficulties, fits and a facial rash – adenoma sebaceum
* Von Recklinghausen may have described a case earlier

3. TS Autosomal Dominant inheritance Two known genes TSC1 and TSC2
Skin, brain, kidney
Epilepsy
Learning difficulties
Behavioural issues
Facial angiofibromas

4. Peri-ungual fibroma
Shagreen patch with ‘satellite lesions’

5. Hypopigmented macule viewed under ultraviolet (Woods) lamp

6. First clinic 1948 Set up by Prof Alan Stevenson in 1948
Professor of social and preventative medicine at Queen’s University Belfast
Went on to found the MRC population genetics unit in Oxford in 1958
Interested in the epidemiology of Epiloia
Inheritance of ‘epiloia’ not clear but a ‘recessive gene… cannot be excluded’

7. Prof Alan C Stevenson
Photo courtesy of Prof Alun Evans

8. Early TSC prevalence 1956

9. Norman C Nevin Lecturer in Human genetics 1967 Interest in ‘TS’
Prevalence paper from Oxford (study initiated by Stevenson)
Autosomal dominant inheritance

10. Norman C Nevin Consultant in Human Genetics 1968
Professor of Medical Genetics
Interest in TSC continued – clinical papers on CT scanning and prevalence
Continued TSC clinic informally until 1995

11. Dr Charles W Shepherd Mayo clinic 1989-1990
Several seminal papers on TSC from the Mayo clinic with Manuel R Gomez.
Set up the TSC clinic formally in Craigavon hospital in 1995
Clinic moved to Belfast in 1997

12. Link with TSA Autism prevalence paper with Anne Hunt Contact with TSA
TSC database started
Appointed Hilda Crawford – genetic counsellor with TSA start-up funding.
 hospital funding for 7 hrs/week

13. Prevalence in 2004

14. Current clinic 2017 20 years since formal City hospital clinic in 1997
Two consultants in genetic medicine share the clinic
Two genetic counsellors share the clinic
One paediatrician
TSC1/2 Laboratory testing
Co-ordinated care for TSC patients in NI
Database allows follow-up

15. Advantages Defined population Most cases can’t escape - >100 cases
Excellent relationships with paediatrics, neurology, dermatology, psychiatry, radiology, nephrology
Centralised funding for testing and treatment

16. Teaching and training Acts as a focus for teaching
Regular training slots for specialist trainees in all aspects of medicine but especially dermatology, psychiatry, paediatrics, renal medicine, neurology
Improved knowledge and relationships with these specialties (see previous slide)

17. Research

18. Managing expectations
Behavioural management is the most difficult aspect to deal with.
Kidney angiomyolipomas (AML’s) and brain sub-ependymal giant cell astrocytomas (SEGA’s) we can mostly screen for.
New drugs such as Everolimus won’t cure everyone and access is currently limited and they have side-effects and efficacy is unclear but promising.
A general overview of the patient to ensure that everything that should be done hopefully does get done.
Liaise with other specialists (e.g. neurology for epilepsy) to ensure prompt referral

19. TSA Advisor Claire Kirk Appointed 1st November 2015 Patient advocate
Fills unmet need
Attends TSC clinic
Organises fund-raising events

20. Questions