Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference☆

Darcy A. Krueger, MD PhD
Hope Northrup, MD
International Tuberous Sclerosis Complex Consensus Group
Hope Northrup, MD (Conference co-chair)
Darcy A. Krueger, MD, PhD (Conference co-chair)
Steven Roberds, PhD (TS Alliance representative)
Katie Smith (TS Alliance representative)
Julian Sampson, DM, FRCP, FMedSci (Genetics chair)
Bruce Korf, MD, PhD (Genetics committee)
David J. Kwiatkowski, MD PhD (Genetics committee)
David Mowat, MD (Genetics committee)
Mark Nellist, PhD (Genetics committee)
Hope Northrup, MD (Genetics committee)
Sue Povey, MD (Genetics committee)
Petrus de Vries, MBChB, MRCPsych, PhD (TSC-associated neuropsychiatric disorders chair)
Anna Byars, PhD (TSC-associated neuropsychiatric disorders committee)
David Dunn, MD (TSC-associated neuropsychiatric disorders committee)
Kevin Ess, MD, PhD (TSC-associated neuropsychiatric disorders committee)
Dena Hook (TSC-associated neuropsychiatric disorders committee)
Anna Jansen, MD, PhD (TSC-associated neuropsychiatric disorders committee)
Bryan King, MD (TSC-associated neuropsychiatric disorders committee)
Mustafa Sahin, MD, PhD (TSC-associated neuropsychiatric disorders committee)
Vicky Whittemore, PhD (TSC-associated neuropsychiatric disorders committee)
Elizabeth Thiele, MD, PhD (Epilepsy chair)
E. Martina Bebin, MD, MPA (Epilepsy committee)
Harry T. Chugani, MD (Epilepsy committee)
Peter Crino, MD, PhD (Epilepsy committee)
Paolo Curatolo, MD (Epilepsy committee)
Greg Holmes, MD (Epilepsy committee)
Rima Nabbout, MD, PhD (Epilepsy committee)
Finbar O'Callaghan, MA, MB, MSc, PhD (Epilepsy committee)
James Wheless, MD (Epilepsy committee)
Joyce Wu, MD (Epilepsy committee)
Thomas N. Darling, MD, PhD (Dermatology and dentistry chair)
Edward W. Cowen, MD, MHSc (Dermatology and dentistry committee)
Elizabeth Gosnell, DMD (Dermatology and dentistry committee)
Adelaide Hebert, MD (Dermatology and dentistry committee)
Greg Mlynarczyk, DDS (Dermatology and dentistry committee)
Keyomaurs Soltani, MD (Dermatology and dentistry committee)
Joyce Teng, MD, PhD (Dermatology and dentistry committee)
Mari Wataya-Kaneda, MD, PhD (Dermatology and dentistry committee)
Patricia M. Witman, MD (Dermatology and dentistry committee)
Chris Kingswood, MSc, FRCP (Nephrology co-chair)
John Bissler, MD (Nephrology co-chair)
Klemens Budde, MD (Nephrology committee)
John Hulbert, MD (Nephrology committee)
Lisa Guay-Woodford, MD (Nephrology committee)
Julian Sampson, DM, FRCP, FMedSci (Nephrology committee)
Matthias Sauter, MD (Nephrology committee)
Bernard Zonneberg, MD, PhD (Nephrology committee)
Sergiusz Jóźwiak, MD, PhD (Brain structure, tubers and tumors chair)
Ute Bartels, MD, MSc (Brain structure, tubers and tumors committee)
Moncef Berhouma, MD (Brain structure, tubers and tumors committee)
David Neal Franz, MD (Brain structure, tubers and tumors committee)
Mary Kay Koenig, MD (Brain structure, tubers and tumors committee)
Darcy A. Krueger, MD, PhD (Brain structure, tubers and tumors committee)
E. Steve Roach, MD (Brain structure, tubers and tumors committee)
Jonathan Roth, MD (Brain structure, tubers and tumors committee)
Henry Wang, MD, PhD (Brain structure, tubers and tumors committee)
Howard Weiner, MD (Brain structure, tubers and tumors committee)
Francis X. McCormack, MD (Pulmonology chair)
Khalid Almoosa, MD (Pulmonology committee)
Alan Brody, MD (Pulmonology committee)
Charles Burger, MD (Pulmonology committee)
Vincent Cottin, MD (Pulmonology committee)
Geraldine Finlay, MD (Pulmonology committee)
Jennifer Glass, MS (Pulmonology committee)
Elizabeth Petri Henske, MD (Pulmonology committee)
Simon Johnson, MD (Pulmonology committee)
Robert Kotloff, MD (Pulmonology committee)
David Lynch, MD (Pulmonology committee)
Joel Moss, MD, PhD (Pulmonology committee)
Karen Smith, MLS (Pulmonology committee)
Jay Rhu, MD (Pulmonology committee)
Angelo Taveira Da Silva, MD, PhD (Pulmonology committee)
Lisa R. Young, MD (Pulmonology committee)
Timothy Knilans, MD (Cardiology chair)
Robert Hinton, MD (Cardiology committee)
Ashwin Prakash, MD (Cardiology committee)
Robb Romp, MD (Cardiology committee)
Arun D. Singh, MD (Ophthalmology chair)
Ashish DebRoy, MD (Gastroenterology chair)
Pei-Lung Chen, MD, PhD (Endocrinology chair)
Steven Sparagana, MD (Care Integration chair)
Michael D. Frost, MD (Care integration committee)

Received 9 July 2013; accepted 1 August 2013.

Abstract

Background

Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices.

Methods

The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly.

Results

The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established.

Conclusions

The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

Keywords: tuberous sclerosis, surveillance, treatment, management, guideline