Should a 36-year-old female with hypercholesterolemia (high cholesterol) and a family history of familial hypercholesterolemia (FH) be prescribed treatment according to Canadian guidelines?

From the Guidelines

A 36-year-old woman with high cholesterol and a family history of familial hypercholesterolemia should be prescribed statin therapy as the first line of treatment, with the goal of reducing LDL cholesterol by at least 50% from baseline, as recommended by the 2018 Guideline 1. The initial treatment typically involves a moderate-intensity statin such as atorvastatin 10-20 mg daily or rosuvastatin 5-10 mg daily. Before initiating treatment, it is essential to obtain a complete lipid panel (total cholesterol, LDL, HDL, triglycerides) and baseline liver function tests. The patient should be screened for secondary causes of hyperlipidemia including hypothyroidism, diabetes, and renal disease. Family history of premature cardiovascular disease is a significant risk factor, and familial hypercholesterolemia specifically warrants more aggressive treatment. Some key points to consider in the management of this patient include:

• Implementing lifestyle modifications concurrently, including a Mediterranean or DASH diet, regular exercise (150 minutes weekly of moderate activity), smoking cessation if applicable, and limiting alcohol consumption.
• Follow-up lipid testing should occur 6-12 weeks after starting therapy to assess response and adjust dosing if needed.
• Annual monitoring of liver function is recommended while on statin therapy.
• If the patient's LDL-C remains ≥ 100 mg/dL despite maximal tolerated statin therapy, the addition of ezetimibe is reasonable, as it has been shown to be well-tolerated and effective in reducing LDL-C levels 1.
• For patients with severe primary hypercholesterolemia and LDL-C ≥ 100 mg/dL despite maximal tolerated statins and ezetimibe, PCSK9 inhibitors may be considered as an additional treatment option, as they have been shown to result in a ≥ 50% additional LDL-C reduction and are well-tolerated 1.

From the FDA Drug Label

As an adjunct to diet to reduce low-density lipoprotein cholesterol (LDL-C) in: Adults with primary hyperlipidemia Adults and pediatric patients aged 10 years and older with heterozygous familial hypercholesterolemia (HeFH).

The patient is an adult with high cholesterol and a family history of hypercholesterolemia. Atorvastatin can be prescribed to reduce LDL-C in adults with primary hyperlipidemia.

• The recommended starting dosage of atorvastatin calcium is 10 mg to 20 mg once daily.
• The dosage range is 10 mg to 80 mg once daily. 2

From the Research

Patient Profile

• The patient is a 36-year-old lady with high cholesterol.
• Her mother has hypercholesterolemia familiale.

Diagnosis and Treatment

• According to 3, familial hypercholesterolemia (FH) is an inherited disease that increases the risk for cardiovascular mortality.
• The patient's family history of hypercholesterolemia familiale suggests a possible genetic component to her high cholesterol.
• Genetic testing may be necessary to confirm the diagnosis of FH, as it is the most accurate way of diagnosing the condition.

Treatment Options

• Statins are the first-line treatment for high cholesterol, but may not be sufficient to reduce LDL cholesterol levels in patients with FH 4.
• Ezetimibe, a cholesterol absorption inhibitor, can be added to statin therapy to further reduce LDL cholesterol levels and decrease the risk of cardiovascular events 4, 5, 6.
• PCSK9 inhibitors, such as alirocumab and evolocumab, can also be used to lower LDL cholesterol levels in patients who do not respond to statin therapy 4, 6.
• A new oral PCSK9 inhibitor, AZD0780, has shown promising results in reducing LDL cholesterol levels in patients with hypercholesterolemia 7.

Canadian Guidelines

• The Canadian guidelines for the management of high cholesterol recommend a comprehensive approach to risk assessment and treatment, including lifestyle modifications and pharmacotherapy.
• The guidelines suggest that patients with a family history of hypercholesterolemia should be screened for FH and treated accordingly.

Next Steps

• The patient should undergo genetic testing to confirm the diagnosis of FH, if suspected.
• The patient's LDL cholesterol levels should be monitored and treated with statins and/or other lipid-lowering therapies, such as ezetimibe or PCSK9 inhibitors, as necessary.
• The patient's response to treatment should be closely monitored, and adjustments made to her treatment plan as needed to achieve optimal LDL cholesterol levels and reduce her risk of cardiovascular events.