From the Guidelines
The first line of treatment for patients with Familial Hypercholesterolemia (FH) is high-intensity statin therapy, typically starting with medications such as atorvastatin (40-80 mg daily) or rosuvastatin (20-40 mg daily). These statins should be initiated as soon as FH is diagnosed, even in children as young as 8-10 years old (with appropriate dose adjustments) 1. The goal is to reduce LDL cholesterol levels by at least 50% from baseline. Statins work by inhibiting HMG-CoA reductase, the rate-limiting enzyme in cholesterol synthesis, thereby decreasing the liver's production of cholesterol and increasing LDL receptor expression, which enhances clearance of LDL from the bloodstream.
Some key points to consider in the management of FH include:
- Lifestyle modifications should accompany statin therapy, including a heart-healthy diet low in saturated fats, regular physical activity, weight management, and smoking cessation.
- Patients should be monitored with lipid panels every 3-6 months initially to assess response and adjust therapy as needed.
- If LDL targets aren't achieved with maximum tolerated statin therapy, additional medications such as ezetimibe (10 mg daily) are typically added as second-line agents before considering PCSK9 inhibitors or other therapies 1.
- The treatment goals for patients with FH should be individualized, taking into account the patient's risk factors, age, and other health conditions 1.
- In patients with homozygous familial hypercholesterolemia, more aggressive treatment may be necessary, including the use of lipoprotein apheresis, lomitapide, or evinacumab 1.
Overall, the management of FH requires a comprehensive approach that includes both pharmacological and lifestyle interventions, with the goal of reducing LDL cholesterol levels and preventing cardiovascular disease.
From the FDA Drug Label
As an adjunct to diet to reduce low-density lipoprotein (LDL-C) in: Adults with primary hyperlipidemia Adults and pediatric patients aged 10 years and older with heterozygous familial hypercholesterolemia (HeFH).
Recommended starting dosage is 10 or 20 mg once daily; dosage range is 10 mg to 80 mg once daily. Patients requiring LDL-C reduction >45% may start at 40 mg once daily.
The first line of treatment for patients with Familial Hypercholesterolemia (FH) is to reduce LDL-C levels through diet and medication.
- Heterozygous Familial Hypercholesterolemia (HeFH): The recommended starting dosage of atorvastatin is 10 mg once daily, with a dosage range of 10 to 20 mg once daily for pediatric patients aged 10 years and older, and 10 to 80 mg once daily for adults.
- Homozygous Familial Hypercholesterolemia (HoFH): Atorvastatin can be used as an adjunct to other LDL-C-lowering therapies to reduce LDL-C levels. It is essential to assess LDL-C levels when clinically appropriate and adjust the dosage if necessary 2.
From the Research
Treatment of Familial Hypercholesterolemia
The first line of treatment for patients with Familial Hypercholesterolemia (FH) is:
- Statins, which are often required at high doses to decrease LDL-C levels 3, 4, 5
- High-potency statins are recommended as initial treatment, but patients with FH may require additional therapies to achieve appropriate LDL-C lowering 3, 4
Additional Treatment Options
Additional treatment options for patients with FH include:
- Ezetimibe, which can be used in combination with statins to further lower LDL-C levels 6, 5, 7
- PCSK9 inhibitors, such as alirocumab and evolocumab, which have been shown to reduce LDL-C levels and cardiovascular morbidity 3, 4, 5, 7
- Mipomersen and lomitapide, which are currently indicated for the management of homozygous FH, but may also be used in patients with heterozygous FH who are statin-refractory 3, 4, 5, 7
- LDL apheresis, which may be necessary for patients with homozygous FH or those with heterozygous FH who are statin-refractory 4, 6, 5
Importance of Early Treatment
Early and aggressive treatment of FH is crucial to prevent premature atherosclerotic cardiovascular disease in these high-risk patients 3, 4, 6, 5, 7