Treatment
A lot of research is being conducted into medication for high cholesterol and FH.
Treatment guidelines for FH.
The Dutch and European guidelines for FH can be found here.
A great deal of research is being conducted worldwide in the field of FH treatment. There are sufficient drugs available to significantly lower LDL.
In the Dutch guideline, FH without established cardiovascular disease is classified as High Risk (target value below 2.6 mmol/L) and FH with established cardiovascular disease as Very High Risk (target value below 1.8 mmol/L).
The European directive assesses the risk of cardiovascular disease in FH as higher, due to the fact that lifelong exposure to high cholesterol often causes more damage to the blood vessels than in patients who only develop high cholesterol later in life. Therefore, the European guideline classifies FH without established cardiovascular disease as High Risk (target value below 1.8 mmol/L) and FH with established cardiovascular disease as Very High Risk (target value below 1.4 mmol/L).
In summary, the following applies to the treatment of FH:
- Ensure a sufficiently powerful LDLc reduction (in any case below 2.6 mmol/L or, if possible, even below 1.8 mmol/L) in adults.
- If other risk factors are present, aim for an even greater reduction in LDL-C (below 1.8 or even below 1.4 mmol/L).
- Where possible, reduce other risk factors (quit smoking, lower blood pressure, lose weight, etc.).
- Start treatment with LDL-C-lowering medications as early as possible (consider starting at age 6)
- For children up to 10 years of age, consider an LDL target level of 3.5 mmol/L (3.0 mmol/L if there are additional risk factors), and for those between 10 and 18 years of age, consider 3.0 mmol/L.
Treatment of FH is customized
Medications and lifestyle work together.
Treatment for FH usually consists of cholesterol-lowering medication combined with lifestyle advice. The most important medications for FH are:
- Statins (such as atorvastatin and rosuvastatin): reduce cholesterol production in the liver and increase LDL receptors, thereby filtering LDL cholesterol from the blood.
- Ezetimibe (EZE): inhibits the absorption of cholesterol from the intestine and is often combined with a statin.
- Plant sterols: natural inhibitors of cholesterol absorption from the intestine, found in special margarines, for example.
- PCSK9 inhibitors: prevent the breakdown of LDL receptors, causing LDL cholesterol to drop further.
The table on the right illustrates the effects of combination therapy on LDL levels. The right treatment always depends on the individual situation. For further information about these treatments, see also Lipidtools.
Sources
- Figure: Figure 2 from 2025 Focused Update of the 2019 ESC/EAS Guidelines for the management of dyslipidaemias: Developed by the task force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)
Early detection pays off
Children and pregnancy
The EAS consensus statement (2026) states: consider treatment starting at age 6. LEEFH therefore recommends considering requesting DNA testing around the age of 6. It is important to do this “early” because experience shows that 12- or 13-year-olds (adolescents in general) are not very receptive to advice about a healthy lifestyle.
Provide children and parents with lifestyle advice regarding physical activity, weight, diet, and smoking. Amsterdam UMC has developed a brochure on lifestyle.
In 2024, LEEFH, in collaboration with Harteraad and Dr. Jeanine Roeters van Lennep, internist vascular medicine at Erasmus MC Rotterdam, and Dr. Willemijn Corpeleijn, pediatrician metabolic diseases, Amsterdam UMC, organized a webinar for (expectant) parents.
Women planning to become pregnant should stop taking cholesterol-lowering medication at least 1 month before conception and continue to do so until after childbirth or until they stop breastfeeding. The use of colesevelam or colestyramine may be continued. It is important to always discuss your desire to have a child with your healthcare provider. Also have your partner tested for cholesterol if you are planning to have a child. The reason is that if FH is present in both parents, there is a chance that the baby will develop a severe form of the condition, namely Homozygous FH.
The baby’s DNA can be tested for FH at birth using umbilical cord blood; you can find the request form here.
