Hypercholesterolemia (High Cholesterol): Symptoms, Causes, Treatment

What are the symptoms of hypercholesterolemia?

Hypercholesterolemia, which refers to high levels of cholesterol in the blood, often does not cause symptoms itself until it leads to complications such as cardiovascular disease. However, in some cases, particularly when cholesterol levels are extremely high, it can lead to visible symptoms such as:

1. Xanthomas: These are fatty deposits that build up under the skin, appearing as yellowish nodules, typically around the eyelids, elbows, knees, or buttocks.
2. Arcus senilis: A whitish or grayish ring around the cornea of the eye, often seen in older adults but can appear earlier in those with hypercholesterolemia.
3. Corneal arcus: A grayish-white ring around the cornea of the eye, seen in younger individuals with high cholesterol levels.
4. Tendon xanthomas: Fatty deposits on tendons, particularly in the hands, elbows, knees, and Achilles tendon, which can feel like nodules under the skin.
5. Symptoms of cardiovascular disease: These may include chest pain (angina), shortness of breath, or symptoms of a heart attack or stroke, which can occur if high cholesterol leads to atherosclerosis (narrowing and hardening of arteries).

If you suspect you have high cholesterol or are at risk, it’s important to consult with a healthcare provider for proper evaluation and management.

What are the causes of hypercholesterolemia?

Hypercholesterolemia, also known as high cholesterol, is a condition characterized by elevated levels of low-density lipoprotein (LDL) cholesterol in the blood. There are several causes of hypercholesterolemia, including:

1. Genetic factors: Familial hypercholesterolemia, a rare genetic disorder, causes high cholesterol due to a defect in the LDL receptor gene.
2. Diet: Consuming a diet high in saturated and trans fats, cholesterol, and refined carbohydrates can increase LDL cholesterol levels.
3. Lack of physical activity: A sedentary lifestyle can contribute to high cholesterol by increasing triglycerides and LDL cholesterol.
4. Obesity: Being overweight or obese can lead to high cholesterol due to insulin resistance and inflammation.
5. Aging: Cholesterol levels tend to increase with age, particularly after menopause in women.
6. Family history: Having a family history of high cholesterol or heart disease can increase your risk.
7. Hormonal imbalances: Hormonal changes during pregnancy, menopause, or polycystic ovary syndrome (PCOS) can lead to changes in lipid profiles.
8. Certain medications: Steroids, certain antacids, and immunosuppressants can increase LDL cholesterol levels.
9. Underlying medical conditions: Conditions like hypothyroidism, Cushing’s syndrome, and nephrotic syndrome can cause high cholesterol.
10. Metabolic syndrome: A cluster of conditions including insulin resistance, high blood pressure, and central obesity can increase the risk of high cholesterol.
11. Smoking: Smoking can lower HDL (good) cholesterol and increase triglycerides, leading to high cholesterol.
12. Chronic kidney disease: Kidney damage can cause increased production of very-low-density lipoprotein (VLDL) particles, leading to high LDL cholesterol.
13. Type 2 diabetes: Uncontrolled type 2 diabetes can lead to increased LDL cholesterol and triglycerides.
14. Cirrhosis of the liver: Liver damage can impair the liver’s ability to remove LDL particles from the bloodstream, leading to high cholesterol.

It’s essential to consult with a healthcare provider if you’re concerned about your cholesterol levels or if you have risk factors for high cholesterol. Lifestyle modifications and, if necessary, medication can help manage hypercholesterolemia and reduce the risk of heart disease.

How is the diagnosis of hypercholesterolemia made?

The diagnosis of hypercholesterolemia is typically made through a combination of medical history, physical examination, and laboratory tests. Here are the steps involved in diagnosing hypercholesterolemia:

1. Medical History: A healthcare provider will ask questions about your medical history, including:
   • Family history of high cholesterol or heart disease
   • Previous diagnoses of high cholesterol or heart disease
   • Current medications and supplements
   • Lifestyle habits, such as diet and exercise
2. Physical Examination: A physical examination may be performed to check for signs of peripheral artery disease, such as:
   • Thickened or weakened arteries
   • Decreased pulses in the legs or feet
   • Skin ulcers or discoloration
3. Laboratory Tests:
   • Lipid Profile: A lipid profile test measures the levels of various lipids in the blood, including:
     • Total cholesterol (TC)
     • Low-density lipoprotein (LDL) cholesterol (bad cholesterol)
     • High-density lipoprotein (HDL) cholesterol (good cholesterol)
     • Triglycerides
   • Fasting Lipid Profile: The test requires you to fast for 9-12 hours before the test to ensure accurate results.
4. Non-Fasting Lipid Profile: If you cannot fast, a non-fasting lipid profile test can be used, but it may not be as accurate.
5. Other Tests:
   • Electrocardiogram (ECG): An ECG may be performed to assess heart function and rhythm.
   • Imaging Tests: Imaging tests, such as ultrasound or computed tomography (CT) scans, may be used to assess the progression of plaque buildup in the arteries.
6. Diagnostic Criteria: Hypercholesterolemia is typically diagnosed if one or more of the following criteria are met:
   • LDL cholesterol ≥ 130 mg/dL
   • HDL cholesterol < 40 mg/dL (for men) or <50 mg/dL (for women)
   • Triglycerides ≥ 150 mg/dL
7. Classification: Hypercholesterolemia is classified into different categories based on the level of LDL cholesterol:
   • Mild hypercholesterolemia: LDL cholesterol 130-159 mg/dL
   • Moderate hypercholesterolemia: LDL cholesterol 160-189 mg/dL
   • Severe hypercholesterolemia: LDL cholesterol ≥190 mg/dL

If you have symptoms such as chest pain, shortness of breath, or dizziness, your healthcare provider may order additional tests to rule out other conditions that can cause similar symptoms.

What is the treatment for hypercholesterolemia?

The treatment for hypercholesterolemia typically involves a combination of lifestyle changes and medication. The goal of treatment is to reduce the level of low-density lipoprotein (LDL) cholesterol and increase the level of high-density lipoprotein (HDL) cholesterol.

Lifestyle Changes:

1. Dietary Changes:
   • Increase consumption of soluble fiber-rich foods, such as oats, barley, fruits, and vegetables.
   • Choose lean protein sources, like poultry, fish, and plant-based options.
   • Limit intake of saturated and trans fats, cholesterol, and refined carbohydrates.
2. Physical Activity:
   • Engage in at least 150 minutes of moderate-intensity aerobic exercise per week.
   • Incorporate strength-training exercises two to three times a week.
3. Weight Management:
   • Maintain a healthy body mass index (BMI).
   • Lose weight if you are overweight or obese.
4. Quit Smoking:
   • Quit smoking or avoid secondhand smoke.

Medications:

1. Statins:
   • Reduce LDL cholesterol by inhibiting the production of cholesterol in the liver.
   • Examples: atorvastatin (Lipitor), simvastatin (Zocor), and rosuvastatin (Crestor).
2. Bile Acid Sequestrants:
   • Reduce LDL cholesterol by binding to bile acids in the gut and preventing their absorption.
   • Example: cholestyramine (Questran).
3. Nicotinic Acid:
   • Increase HDL cholesterol and decrease LDL cholesterol.
   • Example: niacin (Niaspan).
4. Fibric Acid Derivatives:
   • Lower triglycerides and increase HDL cholesterol.
   • Example: gemfibrozil (Lopid).
5. Cholesterol Absorption Inhibitors:
   • Reduce dietary cholesterol absorption.
   • Example: ezetimibe (Zetia).
6. Combination Therapy:
   • Use multiple medications together to achieve better lipid-lowering effects.

Other Treatments:

1. Pharmacological Therapy: Medications like ezetimibe (Zetia) and pitavastatin (Livalo) can be used in combination with statins.
2. Bile Duct Obstruction Therapy: This may be considered for people with severe hypercholesterolemia who are not responsive to other treatments.
3. Liver Transplantation: In rare cases, liver transplantation may be necessary for people with severe hypercholesterolemia caused by genetic disorders.

It’s essential to work with a healthcare provider to determine the best treatment plan for your specific case of hypercholesterolemia.