On June 14 & 15, 2012, more than 60 health care professionals, each having expertise treating one or more aspects of tuberous sclerosis complex (TSC), met in Washington, DC to update consensus recommendations for the diagnosis, surveillance, and management of TSC. The prior guidelines were based on a 1998 consensus conference, and the TSC field has made tremendous advancements in the meantime. The need for updated guidelines for diagnosis, surveillance and treatment was raised at the 2011 meeting of Tuberous Sclerosis Complex International (TSCi) at which there were three ATSS representatives. To ensure the resulting recommendations would benefit from diverse perspectives and be internationally applicable, experts from 14 different countries were included.
Drs. Hope Northrup and Darcy Krueger co-chaired this important effort. Together with the TS Alliance, they selected eight additional experts to lead working groups focused on key aspects of TSC: brain tumours, dermatology and dental, epilepsy, genetics, neuropsychiatry, pulmonary, renal, and a collection of additional manifestations including cardiac, endocrine, gastrointestinal, and retinal. These group leaders, in turn, selected representative experts to participate in the effort. Dr David Mowat, ATSS Medical Advisor, was selected to participate in the Genetics working group. Beginning months prior to the conference, these groups communicated by phone and email to prepare questions, review the scientific literature, and set priorities. This pre-work ensured the face-to-face discussions were efficient and productive.
Indeed, consensus was reached during the intense day-and-a-half meeting based on evaluation of data in the scientific literature and expert opinion. The most significant change to the diagnostic criteria was to enable diagnosis based on genetic testing alone if an individual has a mutation in TSC1 or TSC2 that is known to cause TSC in other individuals or that produces a non-functional TSC1 or TSC2 protein. Recommendations for diagnosis of TSC based on clinical criteria, including major and minor features of TSC, remain similar to the previous criteria, but the guidelines are simplified. Specific recommendations for the surveillance or monitoring of individuals with TSC were developed by each working group.
Similarly, recommendations for treatment of the various manifestations were updated based on the latest data. For each feature of TSC, the recommended treatment approach, such as surgery vs. drug therapy, differed depending on the relative risks, benefits, and state of knowledge. Of course, every individual’s specific situation will influence choices of treatment, but the consensus recommendations will help improve the quality of care to everyone affected by TSC by providing state-of-the-art guidance to physicians around the world who are less familiar with TSC.
Drs. Northrup and Krueger are working on first drafts of the two over-arching manuscripts – one for diagnostic criteria and one for recommendations for surveillance and management of TSC. These articles will describe the overall consensus and highlight the importance of comprehensive and coordinated care in this disease that involves so many different medical specialists. The manuscripts will be submitted to an appropriate scientific journal that will provide open access to everyone worldwide. The working groups will also produce discipline-specific manuscripts to provide more detailed guidance in journals that are frequently read by specialists in the area.
The conference could not have happened without the hard work of the TS Alliance staff and the generous support of sponsors who donated funds without playing a role in the planning or having a presence at the conference: the Rothberg Institute for Childhood Diseases, Novartis, Sandra and Brian O’Brien, and Questcor. We are also grateful for the time and energy invested in this important effort by compassionate international experts to help improve the lives of those affected by TSC around the world.
Adapted with permission from TS Alliance Perspective. Summer 2012.