(RxWiki News) Figuring out how to best manage a disease can be difficult, especially if that disease is rare. In a recent article, new approaches for managing one such rare condition, tuberous sclerosis, were laid out.
Patients with this rare genetic condition are often identified around the time of birth.
In this new article, the author recommended early precautionary steps to watch the progress of tuberous sclerosis, even before any symptoms have developed.
"Connect with fellow patients to help you cope with a condition."
In tuberous sclerosis (TSC), benign tumors develop in different organs of the body, including the brain, kidneys, heart, eyes, lung and skin. According to the National Institutes of Health, TSC typically affects the central nervous system and can involve symptoms like seizures and behavioral problems.
The new article, written by Darcy A. Krueger, MD, PhD, of the Departments of Pediatrics and Neurology at the University of Cincinnati College of Medicine in Cincinnati, Ohio, focused on the management of TSC when it involves the central nervous system.
Dr. Krueger noted that while the diagnosis of TSC has become easier as technology has advanced, management of the condition has remained a complex issue. This is only magnified by the fact that TSC can develop very differently from patient to patient, depending on factors like the organs involved, severity of the disease and age of the patient.
"Management issues in the first few months of life, including neurologic manifestations, are very different than late childhood, adolescence, and adulthood," explained Dr. Krueger. "With increasing numbers of TSC diagnoses being made prenatally or shortly after birth, the opportunity for interventions that may improve long-term developmental and epilepsy outcomes now may precede the onset of neurological clinical symptoms."
Because of this, Dr. Krueger recommended that imaging surveillance of patients, often through the use of magnetic resonance imaging (MRI), to look for subependymal giant cell astrocytoma (SEGA) should be completed every one to three years.
SEGA are fairly common tumors in TSC patients. The tumors can develop in the brain's walls and can sometimes block the flow of fluid to the brain.
Dr. Krueger reported that when SEGA are detected early, quick treatment with medication might prevent the patient from having to go through an invasive surgery later in life.
Dr. Krueger also noted that a procedure called routine electroencephalography (EEG) is becoming more and more common for very young patients with no symptoms. This procedure measures the electrical activity in the brain and can be used to find abnormalities like tumors.
Just as in the case of MRIs, Dr. Krueger noted that EEGs can be used to spot problems and start early treatment instead of waiting for an event like a seizure to occur.
"Effective SEGA treatment and optimal seizure control remain principal during the first few decades of life for the clinical neurologist involved in the management of TSC," wrote Dr. Krueger.
Dr. Krueger reported that it is important to monitor for psychiatric issues related to TSC, starting at an early age and continuing as the patient matures. Dr. Krueger noted that this is important not only for the quality of life of the patients, but for their family and caregivers as well.
This article was published in the October issue of Current Treatment Options in Neurology.
Dr. Krueger has been paid for a variety of work including consulting, promotional activities and participation on advisory boards for the pharmaceutical companies Novartis and Lundbeck Pharmaceuticals. Dr. Krueger reported received research funding from these groups and from the Tuberous Sclerosis Alliance.