Major mutations concerning four genes encoding proteins involved in LDL metabolism have been described in patients with FH: LDL receptor (most common), apolipoprotein B (Apo B), low-density lipoprotein receptor adaptor protein (LDLRAP), and proprotein convertase subtilisin/kexin type 9 (PCSK9). The gene discussed is APOB; the disease is familial hyperaldosteronism.