Recommendations for treatment of familial hypercholesterolemia include:
Lifestyle can help modulate the clinical course of FH. As per the Canadian Cardiovascular Society guidelines for the treatment of dyslipidemia and prevention of cardiovascular disease, FH subjects and their families would benefit from lifestyle management education, including advice regarding:
- Weight control
- Blood pressure control
- Diabetes control
- Smoking cessation; structured smoking cessation programs should be offered to smokers with FH.
Since LDL-Cholesterol has been shown to be a surrogate for end-points such as cardiovascular death, myocardial infarction, and the need for arterial revascularization, the Canadian Cardiovascular Society Position Statement on FH recommend a 50% reduction of LDL-Cholesterol from baseline as the minimal target of treatment in adult FH patients.
Statins are the drug of choice for the treatment of familial hypercholesterolemia and in many cases, the 50% reduction of LDL-Cholesterol is achievable with high-dose statins. Among patients whose LDL-C still requires reduction, the addition of ezetimibe is recommended. In FH patients with established atherosclerotic cardiovascular disease, maximally tolerated doses of statins ± ezetimibe may be used to better lower LDL-C. The addition of bile acid binding resins (cholestyramine, colestipol or colesevelam) may further lower LDL-C by 10-15%, but complex dosage intervals and side effects may limit their use. New drugs, inhibitors of the Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9), are now available and the 2016 Canadian Cardiovascular Society Guidelines for the Management of Dyslipidemia for the Prevention of Cardiovascular Disease in the Adult suggest they should be considered to lower LDL-C level for patients with atherosclerotic CVD in those not at LDL-C goal despite maximally tolerated statin doses with or without ezetimibe therapy.
Homozygous FH patients with extreme LDL-Cholesterol levels should be referred to a specialized center and placed on extracorporeal plasma exchange or LDL filtration. Novel therapies, including orphan drugs should be considered in these individuals. Please consult the “Latest clinical trials” section for more details on novel therapies.
Lifestyle is the cornerstone of preventive strategies in children and all children with a presumptive diagnosis of FH should undergo 6 to 12 months of extensive lifestyle changes including diet, exercise and a tobacco-free environment. If drug treatment is required, statins should be used as first-line therapy with ezetimibe as a second-line agent. Bile acid binding resins should be considered third-line therapy.