Tuberous Sclerosis Affects 1 Million Globally, Lacking Country-Specific Data
Tuberous Sclerosis (TS), impacting around 1 million globally and 50,000 in the US, causes noncancerous tumors in vital organs and skin, often leading to serious complications. Despite its prevalence, reliable country-specific data is lacking, with estimates ranging from 1 in 6,000 to 1 in 12,000. TS can be inherited or caused by spontaneous gene mutation, with about one-third of cases inherited.
TS can be present at birth, but symptoms may take years to develop fully. These can include developmental delay, autism, intellectual disability, seizures, tumors in brain, kidney, or heart, and skin abnormalities. Early intervention is crucial for children showing signs of developmental delay, behavioral problems, or mental impairment. Regular kidney ultrasounds are recommended to monitor for tumors.
Since 2016, a drug called everolimus (Afinitor) has been approved for use in adults with TS who have benign kidney tumors. While there's no known cure for TS, treatments target individual symptoms, and careful monitoring by a doctor is advised to manage the condition effectively.
TS affects a significant number of people worldwide, with the actual number of cases potentially higher due to difficulty in recognition and diagnosis. Despite the challenges, early intervention and regular monitoring can significantly improve the ability to function for those living with TS. Further research and awareness are needed to better understand and manage this complex genetic disorder.
