Understanding, Diagnosing, and Treating Familial Hypercholesterolemia

Michelle Routhenstein, MS, RD, CDE


February 15, 2024

Whether you have high cholesterol or know someone who does, it’s not an uncommon health condition. While there are often multiple factors at play when it comes to high cholesterol, there can also be some truth to the notion that “it’s genetic”. 

Familial hypercholesterolemia (FH) is a genetic disorder, meaning it’s primarily caused by specific genetic mutations that affect the way the body handles cholesterol. But that doesn’t mean there’s nothing you can do about it. Early detection and intervention can make all the difference when it comes to FH. 

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL) in the blood. You’ve probably heard of LDL referred to as the “bad cholesterol”. Elevated LDL can lead to a higher risk of cardiovascular diseases, including heart attacks and strokes.

Of course, high cholesterol can run in families and not be FH. This disorder is diagnosed when LDL cholesterol is above 190 mg/dL.

People who have FH have a genetic mutation that inhibits their body’s ability to remove LDL cholesterol effectively from the bloodstream. As a result, cholesterol builds up in the arteries. Over time, this leads to the development of atherosclerosis, often at an earlier age than would typically be expected. 

There are two main types of familial hypercholesterolemia:

  • Heterozygous Familial Hypercholesterolemia: This refers to when people have one copy of the mutated gene from one parent. This is the most common type of FH. It generally leads to elevated cholesterol levels from a young age but may vary in severity.
  • Homozygous Familial Hypercholesterolemia: This refers to when people have two copies of the mutated gene, one from each parent. This is a more severe form of FH. This type leads to extremely high cholesterol levels and an increased risk of cardiovascular events at a very early age.

FH is usually diagnosed through a combination of clinical exams, an evaluation of your family history, and blood work. 

When FH is diagnosed as early as possible, it can be better managed with medication and lifestyle changes. Most people with FH also require life-saving medications to help manage high cholesterol levels and lower the risk of cardiovascular complications associated with FH. 

Familial Hypercholesterolemia Symptoms

Unfortunately, FH is often asymptomatic. If you’re not getting your cholesterol levels monitored, you may not know you have it until you experience complications related to elevated cholesterol levels. 

However, some people do experience familial hypercholesterolemia symptoms and signs, such as:

  • Premature Atherosclerosis: Atherosclerosis, the buildup of cholesterol and other substances in the arteries, can occur at an early age in individuals with FH. This may lead to cardiovascular complications such as heart attacks and strokes.
  • Xanthomas: These are fatty deposits that can accumulate under the skin. Xanthomas may appear as yellowish nodules, typically around the eyes, elbows, knees, or other joints.
  • Corneal Arcus (Arcus Senilis): A white or grayish ring may appear around the cornea of the eye, which is a sign of lipid deposits.

Diagnosis and Screening

According to researchers, those with homozygous FH often experience coronary events within the first 20 years of life. For heterozygous FH, approximately half of men by age 50 and one-third of women by age 60 are diagnosed with coronary artery disease. In other words, it’s crucial to know your blood lipid trends and detect FH as early as possible.

FH is often diagnosed through cholesterol screening and genetic testing rather than relying solely on symptoms. If there is a suspicion of FH due to a family history of early heart disease or high cholesterol, it’s important to bring this to the attention of your healthcare provider. 

When it comes to diagnosing FH, genetic mutations are most often found in the LDL receptor gene. Early detection, appropriate diagnosis, and interventions are essential to reduce the risk of cardiovascular complications associated with FH.

Treatment Approaches

Because it’s a genetic metabolism disorder, familial hypercholesterolemia treatment goes beyond basic interventions for many other instances of high cholesterol. Lifestyle modifications (like avoiding tobacco use and getting regular exercise) and adopting a science-based, nutrient-sufficient, heart-healthy diet are vital components. It’s important to understand your specific needs for certain nutrients, like saturated fat. I recommend meeting with a cardiovascular dietitian who specializes in heart disease to determine your specific limitations on saturated fat and help create an individualized plan to optimize blood lipid values and blood vessel health.

In addition to science-based nutrition and lifestyle changes, medications play a critical role in the management of FH because of its genetic nature. The primary pharmacological agents prescribed for FH are statins, which are cholesterol-lowering medications that prevent cholesterol production in the liver. Other medications — such as ezetimibe, bile acid sequestrants, and PCSK9 inhibitors — may be prescribed either alone or in combination with statins to further reduce LDL. 

In some cases, someone with FH may require more aggressive treatments to get their LDL levels under better control. A procedure called LDL apheresis, which uses a machine to remove LDL from the blood similar to dialysis, may be considered. In rare cases, a liver transplant may be needed.

Regular monitoring of blood lipids, cardiovascular risk factors, and ongoing medical supervision are essential components of a comprehensive FH treatment plan. It’s important to have a team of specialists who are knowledgeable, including a lipidologist (a clinical expert in lipid disorders) and a cardiology dietitian. Genetic testing may also be recommended to identify specific mutations and help guide other personalized management strategies.

Client Success Story

A 55-year-old woman with FH came to see me. While she had been on a strict vegan diet for 3 years, her numbers before LDL apheresis were still not optimal. Her Lipoprotein(a) (a genetic marker that puts you at a higher risk of heart disease) was trending upwards and she wanted to see how she can optimize her diet to make her treatment more effective.

She was always fit and had a normal BMI (which made many doctors dismiss her heart disease). Yet she still endured several cardiac events, including bypasses and strokes.

In my VIP program, we worked closely together to optimize her blood vessel health and adopt specific FH dietary changes to reduce her LDL and Lp(a) levels.

In 3 weeks, her pre-LDL apheresis values decreased significantly by 28mg/dL for total cholesterol, 30mg/dL for LDL, and 58 nmol/L for Lp(a). 

If you have familial hypercholesterolemia, a targeted treatment plan is crucial to prevent cardiovascular events and complications, which includes science-based nutrition along with medical intervention. Click here to book a discovery call so we can talk about what working together 1:1 could look like for your individual needs. 


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