The pathological substrate of FH is related to the dysfunctional uptake of LDL particles via its receptor and this can either be caused by mutations in the genes encoding for the LDL receptor (LDLR), apolipoprotein B (apoB), or pro-protein convertase subtilisin/kexin 9 (PCSK9). The gene discussed is LDLR; the disease is familial hyperaldosteronism.