High intensity statins are also the first-line medication choice for heterozygous familial hypercholesterolaemia (FH). This inherited condition, characterised by high cholesterol concentration in the blood, is relatively common, affecting up to about 260,000 (1 in 250) people in the UK.8
For people not requiring specialist referral, NICE says the initial aim in FH should be to halve the LDL cholesterol concentration from the baseline measurement. This can mean a daily dose of atorvastatin 20 mg or rosuvastatin 10 mg, unless statins are contraindicated, eg in pregnancy. Atorvastatin is preferred where there is a predisposing risk factor for rhabdomyolysis (rapid break down of muscle tissue) such as being of Asian origin, drug interactions, or being at stage 3 with chronic kidney disease.
If both statins and ezetimibe are contraindicated, a specialist may initiate a bile acid sequestrant (resin) or a fibrate in secondary care. A proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor (alirocumab or evolocumab) may also be considered.8
PCSK9 inhibitors are monoclonal antibodies that are now being used to reduce cholesterol, especially in people for whom standard treatment is not working, as well as in the rarer form of FH, homozygous familial hypercholesterolaemia (HoFH). The liver normally filters out and removes LDL cholesterol with LDL receptors. In HoFH, the protein PCSK9 breaks down LDL receptors increasing blood cholesterol levels. Evolocumab and alirocumab target PCKS9 meaning more LDL receptors are available to reduce cholesterol levels.35,36,37