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Treatments & Targets

The advice in this website does not replace advice from your GP or healthcare provider.

Treatments

A healthy lifestyle is very important but on its own, almost never reduces LDL-cholesterol to the recommended levels in people with FH. Hence, management of FH includes medication(s), additional to a healthy lifestyle.

The most common first-, second- and third-line cholesterol-lowering treatment options in FH are statins, ezetimibe and PCSK9 inhibitors, respectively. Bile acid sequestrants are considered during pregnancy and breastfeeding, as other treatment options are contraindicated.

Statins

  • work by blocking an enzyme that plays a central role in the production of cholesterol in the liver
  • are effective at lowering LDL-cholesterol and reducing the risk of heart attacks
  • lowers LDL-cholesterol by 25-55%
  • come in tablet form and is taken once a day with or without food
  • can have side effects such as muscle pain, increase in blood glucose and increase of certain liver enzymes
  • Examples of statins include Atorvastatin (Lipitor), Simvastatin (Zocor), Fluvastatin (Lescol), Pravastatin (Pravachol) and Rosuvastatin (Crestor).

Cholesterol absorption inhibitors

  • work by decreasing cholesterol absorption in the intestines
  • lowers LDL-cholesterol by 15-25%
  • come in tablet form and is taken once a day with or without food
  • can have side effects such as stomach pain, fatigue and muscle soreness
  • An example of a cholesterol absorption inhibitor is Ezetimibe (Zetia).
  • Statin and ezetimibe can be available in a combined single tablet.

PCKS9 inhibitors

  • Monoclonal antibody
  • work by disabling the PCSK9 protein. This protein makes it harder for the liver to remove LDL-cholesterol from the blood; disabling it typically results in significantly lower LDL.
  • lowers LDL-cholesterol by 50-60%
  • are available as self-injections (every 2 or 4 weeks) in the upper arm, stomach or upper thigh with an easy to use autoinjector pen.
  • can have side effects such as itching, swelling, flu-like symptoms and pain at injection site
  • can be used in combination with statins and ezetimibe resulting in increased LDL-cholesterol reduction
  • Examples of PCSK9 inhibitors include Evolocumab (Repatha) and Alirocumab (Praluent).

Bile acid sequestrants

  • work by binding to bile acids in the intestine, preventing the reabsorption of cholesterol into the blood
  • lowers LDL-cholesterol by 10-30%
  • side effects include constipation, bloating, nausea and gas.
  • can interfere with the absorption of various other medications
  • can be used in combination with statins
  • come in powder form is mixed in with liquid and consumed with food
  • Examples of bile acid sequestrants include Cholestyramine (Prevalite), Colesevelam (Welchol) and Colestipol (Colestid).

Other oral medications that may be prescribed to help lower cholesterol include fibrates, niacin and fish oils, but these are less effective at lowering LDL-cholesterol than the treatments above.

Inclisiran

A new treatment for FH is a therapeutic small interfering RNA targeting PCSK9, called Inclisiran.

  • is a small interfering RNA that blocks the translation of the PCSK9 gene into a protein
  • lowers LDL-cholesterol by up to 50%.
  • are available as self-injections (initially, again at 3 months and followed by every 6 months)
  • can have side effects such as itching, swelling, flu-like symptoms and pain at injection site
  • can be used in combination with statins and ezetimibe resulting in increased LDL-cholesterol reduction
  •  Inclisiran’s commercial name is Leqvio

Lipoprotein apheresis

Lipoprotein apheresis is like dialysis for renal patients but aims to clear LDL-cholesterol from the blood. During lipoprotein apheresis, the plasma portion of the blood is separated and run through a machine that removes the LDL-cholesterol. The treated blood is then returned to the patient. This process takes 2-4 hours and is repeated weekly or fortnightly.

Lipoprotein apheresis is reserved for severe cases of FH who do not respond to standard treatments. This is a typical treatment for patients living with Homozygous FH (FH gene variant inherited from BOTH parents).

Targets

LDL-cholesterol goals

LDL-cholesterol goals will vary for each individual FH patient.

For adults:

  • Initially a 50% reduction in LDL-cholesterol, then
  • LDL-cholesterol less than 2.5 mmol/l if no cardiovascular disease risk factors are present
  • LDL-cholesterol less than 1.8 mmol/l if cardiovascular disease risk factors are present
  • LDL-cholesterol less than 1.4 mmol/l if cardiovascular disease is present
  • LDL-cholesterol less than 1.0 mmol/l can be considered if there are recurrent cardiovascular events within 2 years

For children <10 years:

  • A 30-40% reduction in LDL-cholesterol, or
  • LDL-cholesterol less than 4.0 mmol/l

For children >10 years:

  • A 50% reduction in LDL-cholesterol, or
  • LDL-cholesterol less than 3.5 mmol/l

Cardiovascular risk factors include hypertension, obesity, diabetes, smoking, elevated lipoprotein(a) and imaging evidence of cardiovascular disease.

Cardiovascular disease includes unstable angina, myocardial infarction, revascularisation and stroke.

Cholesterol levels should be regularly checked to ensure that the treatments are working.