Tuberous Sclerosis

By Roger Shuler

tuberousFOUR FOR FIGHTING RARE DISEASES: Research and clinical care experts (from left) Bruce Korf, Martina Bebin, Alan Percy, and David Warnock treat patients from across the country at UAB clinics.Martina Bebin, M.D., M.P.A., has been caring for tuberous sclerosis patients for 15 years, but she still finds herself regularly learning something new about the disease. "No two patients are the same," Bebin says. "It's an area that is evolving, with a number of new treatments." Tuberous sclerosis (TS) is a rare, multisystem genetic disease that causes benign tumors to form in a number of vital organs—primarily the brain, eyes, heart, kidney, skin, and lungs. It commonly affects the central nervous system, with symptoms that include seizures, developmental delays, behavioral problems, skin abnormalities, and kidney disease.

The incidence of TS is estimated to be one in 6,000 live births, meaning approximately 50,000 individuals in the United States and more than 1 million worldwide have the disease. There is no cure for TS, but treatment is available for a number of the symptoms.

Bebin's career has focused on pediatric epilepsy. That grew into an interest in TS while she was completing her residency in neurology at the Mayo Clinic, where she worked with the late Manuel Rodriguez Gomez, M.D., who was a leading expert in TS. Bebin came to UAB in 1994, and the idea for the TS clinic began to take shape not long after Bruce Korf arrived as chair of the Department of Genetics.

"The life expectancy for these patients is normal, but 80 percent will have seizures or epilepsy during their lifetimes," Bebin says. "Some have learning disabilities. Many are asymptomatic and lead normal lives and don't even know they have the disease until they have a child who has it. It manifests in a variety of ways, and that's why it's so important to have preventive maintenance for these patients. They need appropriate diagnosis and screening tests at scheduled intervals so they really know their health status."

A Lifetime of Care

UAB took a major step forward by opening a TS clinic, the first in the Southeast, in April 2007. It covers patients from Alabama, Mississippi, Louisiana, and Arkansas. There are an estimated 700 TS patients in Alabama alone.

The clinic allows patients and families to come to one place for comprehensive care, Bebin says. "We have one doctor take the lead in making sure the patient receives quality care and understands the state of the condition throughout his or her lifetime. And because it's a genetic condition, we offer genetic counseling and provide guidance for families."

Bebin and Korf lead the TS clinic, along with dermatologist Amy Theos, M.D., and they are joined by more than 20 specialists from across the UAB medical center. "We cover 11 subspecialties, and the faculty participation in the clinic has been wonderful," Bebin says.

There are about 20 TS clinics in the country, Bebin notes, and half of them see pediatric patients exclusively. But at UAB's new clinic, "We are able to combine the skills of our pediatric and adult faculty to take care of these patients throughout their lifetimes."

Hope for the Future

UAB's new clinic is expected to put the university on the cutting edge of TS research. "People from our area now have to travel a long way to participate in clinical trials," Bebin says. "But we are moving toward offering access to clinical trials and new treatment options."

Hypopigmented areas or lesions on the skin are one of the most common manifestations of TS, and new laser techniques help improve physical appearance and quality of life. Rapamycin, a drug that was developed to treat kidney lesions in transplant patients, has also shown promise for shrinking brain lesions in TS patients.

Epilepsy surgery has been available for about 15 years for select TS patients with seizures. But new neuroimaging techniques allow surgery to be more precise and lead to improved results, curing or significantly improving seizures.

Early this year UAB became part of the Tuberous Sclerosis Complex National History Database Project, which is designed to expand knowledge of the spectrum of the tuberous sclerosis complex, from infancy to adulthood. This is an exciting step, Bebin says, which "will generate more research questions and will allow us to pool knowledge from all clinics."