Consensus statement for the diagnosis, management and surveillance of patients with tuberous sclerosis complex in Bulgaria

2019

Abstract

Tuberous Sclerosis Complex (TSC) is characterized by multiorgan involvement that can affect the brain, heart, skin, kidneys, lungs and liver, with a predisposition to formation of benign tumors. The clinical manifestations of the disease are highly diverse in regard to both organ system involvement and severity, with some more prevalent during infancy and others more likely to affect individuals as adults. Many manifestations can be life-threatening and appropriate surveillance and management is necessary to limit morbidity and mortality in this disease. Appropriate management is also crucial for optimal quality of life of affected individuals and requires coordination of care among medical specialties.
Better understanding of the genetic nature of the disease (the role of TSC1 and TSC2 genes in the regulation of cell growth and metabolism  mTOR pathway) is a main factor in modern pathogenetic treatment. mTORC1 inhibitors are used for treatment of some life-threatening TSC-related clinical manifestations, such as subependymal giant cell astrocytomas in the brain, renal angiomyolipomas and pulmonary lymphangioleiomyoma-tosis.
The multiorgan involvement in TSC patients requires a multidisciplinary approach with coordination of surveillance and care services among medical specialties from childhood to adulthood.