First in Southeast, Offers Coordinated Management

UAB recently opened the first Tuberous Sclerosis Clinic in the Southeast, offering comprehensive, lifelong patient services and genetic counseling to children and adults with tuberous sclerosis complex (TSC).

TSC is a genetic disorder caused by mutations in TSC1 or TSC2, the two involved genes thus far identified. TSC is inherited as a dominant trait, although two thirds of cases are due to new mutations. “Given the complicated nature of TSC genetics, all families who have an affected relative should discuss their unique risk to have either TSC or a child with TSC,” says Bruce R. Korf, MD, PhD, chair of the UAB Department of Genetics, who codirects the clinic with neurologist Martina Bebin, MD, MPA.

Symptoms of TSC can range from mild and often unnoticed to very severe. Its signature hamartoma formations can manifest in many organ systems, but the majority of patients with severe, early complications are diagnosed after a seizure episode. “Most morbidity and mortality are associated with benign tumor growth in the brain or kidney, but many patients can have fairly normal life spans,” Korf says.

“The Tuberous Sclerosis clinic provides initial evaluation and annual follow-ups, comprehensive day-to-day care, and regular monitoring of currently silent giant cell astrocytomas, which can block cerebrospinal fluid flow, or renal angiomyolipomas that can become a life-threatening surgical emergency,” Korf says. “Our clinic involves experts in genetics, neurology, epilepsy, dermatology, and genetic counseling, and can readily coordinate access to consultants in endocrinology, pulmonology, nephrology, neuropsychology, neurosurgery, ophthalmology, and others, all of whom are familiar with the medical concerns of TSC patients and their families.”

Korf, Bebin, dermatologist Amy J. Theos, MD, and genetic counselor Christina Barger, MS, staff the monthly clinic. Patients and family members, often part of the highly structured Tuberous Sclerosis Alliance (TSA), have welcomed the clinic. Bebin says, “They feel secure knowing their overall management conforms to the latest guidelines and that new scientific developments will be quickly available.” The TSA helps fund a network of US clinics. UAB plans to apply for inclusion in 2008, which will allow the clinic to participate in a recently created natural history database and offer patients access to clinical trials.

TSC has an estimated incidence of 1 in 6000 births and occurs equally in both sexes and all ethnic groups. It is a clinical diagnosis, based on an algorithm that seeks to identify multiple major features or a combination of a single major plus multiple minor features. Major features may include:

• facial angiofibromas or forehead plaque
• nontraumatic ungual or periungual fibroma
• hypomelanotic macules
• shagreen patch
• multiple retinal nodular hamartomas
• cortical tuber
• subependymal nodule
• subependymal giant cell astrocytoma
• cardiac rhabdomyoma
• lymphangioleiomyomatosis
• renal angiomyolipoma

For more information:
Dr. Bruce Korf
Dr. Martina Bebin
1.800.UAB.MIST
mist@uabmc.edu
1.800.UAB.MIST
mist@uabmc.edu