Is FH a curable disease?

Abstract

The history of familial hypercholesterolemia (FH) represents one of the most remarkable examples of translational medicine, progressing from a clinical observation to molecular genetics and, ultimately, to highly effective targeted therapies.

The story began in 1938 when Carl Müller first described the association between tendon xanthomas, markedly elevated serum cholesterol, premature myocardial infarction, and autosomal dominant inheritance [1]. Remarkably, he recognized the hereditary nature of the disorder decades before the discovery of the LDL receptor (LDLR) and proposed that FH represented an inborn error of metabolism. These pioneering observations laid the foundation for the modern understanding of FH [1, 2].