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Eur J Paediatr Neurol. 2016 Mar;20(2):296-308. doi: 10.1016/j.ejpn.2015.11.011. Epub 2015 Dec 11.

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).

Author information

1
The Royal Sussex County Hospital, Brighton, UK. Electronic address: chriskingswood@me.com.
2
Institute of Psychiatry, Kings College London, London, UK.
3
York Hospital, York, UK.
4
Epsom and St Helier University Hospitals NHS Trust, UK.
5
Queen's Medical Centre, Nottingham, UK.
6
Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK.
7
Nobles Hospital, Isle of Man, UK.
8
Tuberous Sclerosis Association, London, UK.
9
IMS Health, London, UK.
10
Novartis Pharmaceuticals, UK Ltd, Frimley, UK.
11
Novartis Pharmaceuticals Corporation, East Hanover NJ, USA.

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.

AIMS:

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.

KEYWORDS:

Angiomyolipoma; Epilepsy; Prevalence manifestations; Retrospective database; Subependymal giant cell astrocytoma (SEGA); Tuberous sclerosis

PMID:
26706603
DOI:
10.1016/j.ejpn.2015.11.011
[Indexed for MEDLINE]
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