Characterization of the First PCSK9 Gain of Function Homozygote

The cellular uptake of fluorescent LDL in those cells paralleled the levels of cell surface LDLR expression in control and the patient's lymphocytes alike (not shown). [...]the LDLR of the proband and of her parents is normally expressed and fully functional, underscoring the causative link that exists between their FH phenotype and their PCSK9 mutations. [...]as seen in other FH children, the phenotype is always milder than in adulthood (4). Because her phenotype can worsen over time, these novel therapeutic options (a statin with a PCSK9 inhibitor) will probably allow her to maintain her LDL values below target levels for high-risk patients.