Abstract:
Tuberous sclerosis complex (TSC) is a genetic disorder with multi-system manifestations and a high burden of disease. In 2013, an
international panel of TSC experts revised the guidelines for the diagnosis, surveillance and treatment of the disorder. In South Africa (SA),
a local multidisciplinary group of healthcare professionals and TSC researchers reviewed the international guidelines to generate an SA
consensus clinical update on the identification, diagnosis, treatment and lifelong monitoring of individuals who live with TSC. We strongly
endorse dissemination and use of the international guidelines for the assessment, monitoring and treatment of TSC. In addition, we strongly
support access to genetic testing and to mTOR (mammalian target of rapamycin) inhibitors to treat subependymal giant cell astrocytomas
not amenable to surgery and renal angiomyolipomas larger than 3 cm, and as adjunctive treatment for refractory focal seizures. We await
with interest results from mTOR inhibitor trials of skin and TSC-associated neuropsychiatric disorders (TAND). With regard to training,
we recommend the inclusion of TSC in undergraduate and postgraduate medical and health sciences curricula, and the promotion of other
continuing professional development events to raise awareness about TSC. We also support the development of a TSC user/carer/parent
organisation to provide an informal support network for families across SA. We acknowledge that some progress has been made in recent
years in SA, but much remains to be done. We hope that this SA consensus clinical update based on the international guidelines will make
a positive contribution to increase knowledge and improve clinical care for all patients who live with TSC in SA, and their families.
