Continuing Medical Education

Diagnosis, monitoring and treatment of tuberous sclerosis complex: A South African consensus response to international guidelines

Petrus J de Vries, Loren Leclezio, Jo M Wilmshurst, Graham Fieggen, Errol Gottlich, Lorna Jacklin, Indiran P Naiker, Raj Newaj, Desmond Shamley, Birgit Schlegel, Andre Venter

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 onsensus 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.


Authors' affiliations

Petrus J de Vries, Division of Child and Adolescent Psychiatry, Faculty of Health Sciences, University of Cape Town, South Africa

Loren Leclezio, Division of Child and Adolescent Psychiatry, Faculty of Health Sciences, University of Cape Town, South Africa

Jo M Wilmshurst, Tuberous Sclerosis Complex Clinic, Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital and Faculty of Health Sciences, University of Cape Town, South Africa

Graham Fieggen, Division of Neurosurgery, Faculty of Health Sciences, University of Cape Town, South Africa

Errol Gottlich, Paediatric nephrologist, private practice, Johannesburg; Department of Paediatric Nephrology, Faculty of Health Sciences, University of Pretoria; and Clinical specialist, Discovery Health, South Africa

Lorna Jacklin, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

Indiran P Naiker, Nephrologist, private practice, Durban, South Africa

Raj Newaj, Dermatologist, private practice, Johannesburg, South Africa

Desmond Shamley, Neurologist, private practice, Johannesburg, South Africa

Birgit Schlegel, Tuberous Sclerosis Complex Clinic, Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital and Faculty of Health Sciences, University of Cape Town; and Paediatric neurologist, private practice, Cape Town, South Africa

Andre Venter, Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa

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Keywords

Tuberous sclerosis; Consensus guidelines; Diagnostic criteria; Evidence-based treatments; mTOR inhibitors; South Africa

Cite this article

South African Medical Journal 2017;107(5):368-378. DOI:10.7196/SAMJ.2017.v107i5.12447

Article History

Date submitted: 2017-04-25
Date published: 2017-04-25

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