Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016-2022.
Callum Richard Thomas Kidson, Ne-Ron Loh, Yasir Ahmed Syed
PMID 40065422WHAT IT FOUND
In 19 TSC deaths, larger kidney tumours linked to younger age at death.
Cancer caused many deaths, likely worsened by pandemic delays. No deaths from lung complications, possibly due to better monitoring and mTOR inhibitor use.
Key findings
01Larger kidney tumours correlated with younger age at death in 11 people with complete data.
02Five deaths were caused by malignant cancers not normally associated with TSC, with a sixth suspected.
03Four people had lung complications but none died from them, unlike previous studies.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study is a service audit from a single specialist centre, so it may over-represent severe cases. The number of deaths was small (19), limiting statistical power. Many deaths occurred during the COVID-19 pandemic, which likely delayed cancer diagnosis and treatment. Genetic testing was not routine, so some classifications relied on clinical diagnosis. Infant deaths may be underrepresented as they might not be referred to this clinic.
Declared interests
The authors declare no conflicts of interest.
The easy way to misread this
Do not assume the lower rate of TSC-related deaths proves treatment improvements. The high number of cancer deaths during the pandemic suggests that delayed diagnosis may have shifted the cause of death profile, masking the true impact of TSC-specific interventions.