title: The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).
abstract: BACKGROUND
  Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder characterised by the development of benign growths and diverse clinical manifestations, varying in severity, age at onset and with high clinical burden.
  
  
  OBJECTIVE
  This longitudinal study aims to describe the broad spectrum of clinical manifestation profiles in a large, representative cohort of TSC patients in the UK in order to better understand disease complexity.
  
  
  METHODS
  TSC patients in the Clinical Practice Research Datalink (CPRD) and linked Hospital Episodes Statistics (CPRD-HES) were retrospectively identified between 1987 and 2013. Available history was extracted for each patient and clinical diagnosis, procedure and medication records reviewed. A random selection of patients from the CPRD-HES was used as a Comparator cohort.
  
  
  RESULTS
  Three hundred and thirty-four TSC patients with a mean (SD) age of 30.3 (18.6) years were identified (53% female). TSC was diagnosed at mean age 3.2 (4.2) years. Epilepsy and psychiatric manifestations were reported frequently in paediatric (77% and 55%, respectively) and adult patients (66% and 68%, respectively). The prevalence of manifestations in the TSC cohort was markedly higher versus the Comparator cohort. The majority of paediatric (46%) and adult TSC patients (62%) developed clinical manifestations affecting at least three organ systems and forty-nine distinctive organ system manifestation profiles were identified.
  
  
  CONCLUSIONS
  TSC patients present with multiple and complex clinical manifestations and profiles that necessitate the co-ordinated action of a multidisciplinary team in order to improve the quality and efficiency of care.
authors.affiliation: The Royal Sussex County Hospital, Brighton, UK. Electronic address: chriskingswood@me.com.
authors.forename: Christopher
authors.initials: C
authors.lastname: Kingswood
authors.affiliation: Institute of Psychiatry, Kings College London, London, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Bolton
authors.affiliation: York Hospital, York, UK.
authors.forename: Pamela
authors.initials: P
authors.lastname: Crawford
authors.affiliation: Epsom and St Helier University Hospitals NHS Trust, UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: Harland
authors.affiliation: Queen's Medical Centre, Nottingham, UK.
authors.forename: Simon R
authors.initials: SR
authors.lastname: Johnson
authors.affiliation: Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK.
authors.forename: Julian R
authors.initials: JR
authors.lastname: Sampson
authors.affiliation: Nobles Hospital, Isle of Man, UK.
authors.forename: Charles
authors.initials: C
authors.lastname: Shepherd
authors.affiliation: Tuberous Sclerosis Association, London, UK.
authors.forename: Jayne
authors.initials: J
authors.lastname: Spink
authors.affiliation: IMS Health, London, UK.
authors.forename: Dirk
authors.initials: D
authors.lastname: Demuth
authors.affiliation: IMS Health, London, UK.
authors.forename: Lara
authors.initials: L
authors.lastname: Lucchese
authors.affiliation: IMS Health, London, UK.
authors.forename: Paola
authors.initials: P
authors.lastname: Nasuti
authors.affiliation: Novartis Pharmaceuticals, UK Ltd, Frimley, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Gray
authors.affiliation: Novartis Pharmaceuticals, UK Ltd, Frimley, UK.
authors.forename: Alun
authors.initials: A
authors.lastname: Pinnegar
authors.affiliation: Novartis Pharmaceuticals Corporation, East Hanover NJ, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Magestro
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D014402:Tuberous Sclerosis / Q000150:complications* / Q000473:pathology*; D006113:United Kingdom
keywords: Angiomyolipoma; Epilepsy; Prevalence manifestations; Retrospective database; Subependymal giant cell astrocytoma (SEGA); Tuberous sclerosis