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.

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.

• Authors: Christopher Kingswood, Patrick Bolton, Pamela Crawford, Christopher Harland, Simon R Johnson, Julian R Sampson, Charles Shepherd, Jayne Spink, Dirk Demuth, Lara Lucchese, Paola Nasuti, Elizabeth Gray, Alun Pinnegar, Matthew Magestro
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 20 Issue 2 Pg. 296-308 (Mar 2016) ISSN: 1532-2130 [Electronic] England
• PMID: 26706603 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Topics

• Adult
• Child
• Child, Preschool
• Databases, Factual
• Female
• Humans
• Longitudinal Studies
• Male
• Middle Aged
• Retrospective Studies
• Tuberous Sclerosis (complications, pathology)
• United Kingdom