Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disorder causing dangerously high LDL cholesterol levels, increasing the risk of heart disease. Current research focuses on improving early and accurate diagnosis, moving beyond traditional methods that are often complex and lead to underdiagnosis. This involves developing sophisticated machine learning models, such as deep learning architectures applied to tabular clinical data, to classify individuals into different FH likelihood categories. Improved diagnostic tools promise to enable timely interventions and significantly reduce the burden of this serious condition.

Papers