Journal of Multidisciplinary Healthcare (Jul 2022)
Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge
Abstract
Inês Gomes,1 Joana Jesus Ribeiro,2 Filipe Palavra3– 5 1Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 2Neurology Department, Centro Hospitalar de Leiria, Leiria, Portugal; 3Center for Child Development – Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 4Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal; 5Laboratory of Pharmacology and Experimental Therapeutics, Faculty of Medicine, University of Coimbra, Coimbra, PortugalCorrespondence: Filipe Palavra, Center for Child Development – Neuropediatrics Unit, Hospital Pediátrico, Avenida Afonso Romão, Coimbra, 3000-602, Portugal, Email [email protected]: Tuberous sclerosis complex (TSC) is a rare genetic disease of autosomal dominant transmission that, in most cases, results from the presence of pathogenic variants of the TSC1 or TSC2 genes, encoding hamartin and tuberin, respectively. It is a multisystemic disease, affecting most frequently the brain, skin, kidney, and heart. The wide variety of possible clinical manifestations, given this multisystem dimension, makes the follow-up of patients with TSC an exercise of multidisciplinarity. In fact, these patients may require the intervention of various medical specialties, which thus have to combine their efforts to practice a medicine that is truly holistic. The past few years have witnessed a dramatic leap not only in the diagnosis and management of TSC patients, with standard monitoring recommendations, but also in the therapeutic field, with the use of mTORC1 inhibitors. In this article, we review the clinical manifestations associated with TSC, as well as the treatment and follow-up strategies that should be implemented, from a multidisciplinary perspective.Keywords: tuberous sclerosis complex, multidisciplinary communications, care management, patient
