New Recommendations for the Treatment of TSC

Tuberous sclerosis treatment sees possible changes based on new research

/ Author:  / Reviewed by: Joseph V. Madia, MD Beth Bolt, RPh

(RxWiki News) Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, including the brain, heart, and lungs. Recent advances in technology and our understanding of the disease has led to new recommended treatments.

The 2012 International Tuberous Sclerosis Complex Consensus Group studied information from around the world to update the treatment and maintenance TSC patients receive. The group considered 12 key areas affected by TSC.

New recommendations include changes in treatment based on the age of the patient. This provides a lifelong path of treatment for each individual.

According to the recommendations, anyone diagnosed with TSC should obtain three generations of their family history to determine if other relatives are at risk for the disorder.

"Review your treatment options for TSC with your doctor."

This study was conducted by Darcy A. Krueger, PhD, of the Division of Neurology in the Department of Pediatrics at Cincinnati Children's Hospital Medical Center, and colleagues.

The 2012 International Tuberous Sclerosis Complex Consensus Group identified and reviewed 2,692 articles relevant to the identification and treatment of TSC. Specialists were then split into 12 groups that reflected their individual expertise ranging from dermatology to epilepsy in an effort to determine if data existed to support a change to currently recommended treatments within each grouping.

Data collection and evaluation began in June 2012, with finishing work and editing running into early 2013.

Data was collected from around the world and was considered regardless of the language in which it was published. Articles were required to have publishing dates between 1997 and 2012.

Guidelines for the treatment of TSC had not been updated since 1998. Medical and technical advancements, including a greater understanding of the gene mutation itself, warranted additional evaluation of current practices. This research entity was established in 2011 to undergo such a review.

The researchers were able to establish new guidelines for all 12 groups and in some cases differing recommendations based on the age of the patient.

The guidelines suggested that patients under 25 get baseline magnetic resonance imaging (MRI) of the brain and kidneys every one to three years to monitor for the occurrence of new slow growth tumors.

Clinical screening of the lungs for shortness of breath and other symptoms of lymphangioleiomyomatosis (LAM) should be performed with each visit.

Skin and eyes should receive annual detailed inspection and evaluation, while teeth should be examined every six months and panoramic radiographs should be performed by age 7.

It is important that patients and their direct first line relatives receive genetic testing and counseling before reaching reproductive age.

These diagnostic and surveillance recommendations are based on the best current information available. Continued study and ever increasing improvements to scientific understanding may reveal additional treatments.

These recommendations were published in October in Pediatric Neurology.

The 2012 International TSC Clinical Consensus Conference was sponsored and organized by the Tuberous Sclerosis Alliance. The conference was supported by sponsors who donated funds to the Tuberous Sclerosis Alliance without playing a role in the planning or having a presence at the conference and the resulting recommendations. These sponsors included the Rothberg Institute for Childhood Diseases, Novartis Pharmaceuticals, Sandra and Brian O'Brien and Questcor Pharmaceuticals.

Review Date: 
November 19, 2013
Last Updated:
November 20, 2013