Medicines for Tuberous sclerosis

What it is

Tuberous sclerosis (tuberous sclerosis complex) is a genetic condition in which non-cancerous (benign) growths develop in various parts of the body, including the brain, skin, kidneys, heart, eyes and lungs. It is caused by a change in one of two genes that normally help control cell growth. It can be inherited from a parent or occur as a new change. The features and their severity vary enormously between people — from mild (some people are only mildly affected and may be diagnosed late) to more significant. Common features include: skin changes (such as pale patches, areas of thickened skin, and small bumps on the face); effects on the brain, which can cause epilepsy (seizures are common and can start in infancy), and learning and developmental differences and behavioural features (including features that can overlap with autism) in some people; growths in the kidneys (which need monitoring); and growths in the heart (often present at birth and sometimes shrinking over time), eyes, and, in some adults, the lungs. Because it affects multiple organs and varies so much, tuberous sclerosis is managed with regular monitoring and a coordinated, individualised approach, and understanding which features a person has guides their care.

How it is treated

Tuberous sclerosis is managed with a coordinated, multidisciplinary approach tailored to the individual, focusing on monitoring the organs that can be affected and treating specific problems, since features and severity vary so widely. Diagnosis is based on the clinical features and confirmed with genetic testing, and a baseline assessment checks the various organs. Ongoing care typically includes: regular monitoring (such as of the kidneys and brain, and other organs as relevant) to detect and manage growths and complications early; managing epilepsy where present (which is an important aspect, with seizure treatments and, in some, other approaches); developmental, educational and behavioural support where there are learning or developmental differences; and treating skin, eye, kidney, or lung features as needed. Notably, certain targeted medicines (mTOR inhibitors) can shrink some of the growths (in the kidneys and brain) and help with some features, and are used in appropriate situations under specialist care. Support for the person and family, and access to specialist tuberous sclerosis services and support organisations, are important. Genetic counselling is offered, given the inherited nature. The reassuring message is that tuberous sclerosis is managed with regular monitoring and tailored treatment — controlling epilepsy, watching and treating organ growths, and supporting development — and that care is individualised to each person's particular features.