Hypercholesterolemia: Symptoms, Causes & Treatment

Hypercholesterolemia, or high cholesterol, is a condition where there is too much cholesterol in the blood. It usually doesn’t cause symptoms, but in some cases, people may develop firm nodules on their tendons or a grayish ring around the colored part of the eye (iris).

High cholesterol can be linked to factors such as a diet high in saturated fats, lack of physical activity, excess body weight, and genetic predisposition.

If your cholesterol test results are abnormal, it’s important to see your primary care provider or a cardiologist. They can confirm the diagnosis and recommend the most appropriate treatment, which may include dietary changes, medication, and lifestyle changes.

Hypercholesterolemia symptoms

High cholesterol symptoms include:

• Tendon xanthomas, which are hard nodules caused by cholesterol deposits in the tendons

• A gray-colored ring around the iris of the eye, called arcus senilis

• Xanthelasma, which are yellowish bumps caused by cholesterol deposits around the eyes

Hypercholesterolemia usually does not cause symptoms. However, excess cholesterol in the blood can lead to fat buildup in the liver, which may cause symptoms.

Long-term, untreated hypercholesterolemia increases the risk of premature atherosclerotic cardiovascular disease and coronary artery disease.

Familial hypercholesterolemia

Familial hypercholesterolemia is a condition characterized by very high levels of LDL (“bad”) cholesterol in the blood and an increased risk of premature atherosclerotic cardiovascular disease.

This type of hypercholesterolemia can happen due to genetic changes related to lipoprotein metabolism or changes in LDL receptor genes, for example.

Pure hypercholesterolemia

Pure hypercholesterolemia, also called isolated hypercholesterolemia, means that only LDL cholesterol levels are elevated on a blood test.

Confirming a diagnosis

Hypercholesterolemia (high cholesterol) is diagnosed by a primary care provider or cardiologist through a physical exam and an evaluation of the person’s personal and family health history.

To confirm the diagnosis, the doctor orders a lipid panel, which is a blood test that measures total cholesterol and cholesterol fractions, such as HDL and LDL.

LDL cholesterol is considered elevated when it is 130 mg/dL or higher. However, current US guidelines focus less on fixed cutoffs and more on achieving target LDL levels based on a person’s overall cardiovascular risk. In general, the recommended targets are below 100 mg/dL for people with moderate risk, below 70 mg/dL for high risk, and below 55 mg/dL for very high risk.

Causes of hypercholesterolemia

Hypercholesterolemia can be caused by conditions such as:

• A diet high in saturated fat and trans fat

• Physical inactivity

• Excess body weight

• Excessive alcohol intake

• Use of medications, such as diuretics, birth control pills, corticosteroids, and estrogens

Hypercholesterolemia can also be caused by conditions such as kidney or liver disease, type 2 diabetes, hypothyroidism, or genetic changes, as seen in familial hypercholesterolemia.

Treatment options

Treatment for hypercholesterolemia should be guided by a healthcare provider and may include:

1. Healthy diet

Eating a healthy, low cholesterol diet is a key part of treating hypercholesterolemia. A registered dietitian may recommend limiting saturated fat and avoiding foods with trans fat, which can be found in foods such as beef, bacon, full-fat dairy products, and ultra-processed foods, for example.

According to the American Heart Association, saturated fat can affect cholesterol levels and increase the risk of heart disease, while replacing foods high in saturated fat with unsaturated fats may help lower this risk.

It is also important to increase the intake of vegetables, fruits, legumes, and whole grains, as these foods are rich in fiber and bioactive compounds that help lower cholesterol levels.

Eating foods rich in unsaturated fatty acids, such as canola oil, nuts, and sardines, is also important. These foods have antioxidant properties that help lower LDL (“bad”) cholesterol in the blood and increase “good” HDL cholesterol levels.

2. Medication

When lifestyle changes are not enough to lower cholesterol levels, a provider may prescribe cholesterol medicine such as statins and fibrates.

3. Lifestyle measures

Some lifestyle measures recommended to help lower cholesterol:

• Getting regular physical activity, at least 150 minutes per week at moderate intensity, to help increase HDL cholesterol

• Drinking alcoholic beverages in moderation, as excess alcohol can increase cholesterol

• Maintaining an ideal body weight

It is also important to stop smoking, as smoking can lower HDL (“good”) cholesterol and contribute to atherosclerosis.