Hypercholesterolemia

Hypercholesterolemia refers to abnormally high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that’s found in all cells of your body. It’s essential for building healthy cells, but high levels can lead to health problems. Your body produces all the cholesterol it needs, and you also get it from certain foods. When there’s too much cholesterol, particularly low-density lipoprotein (LDL) cholesterol, it can build up in the walls of your arteries, forming plaques. This process, called atherosclerosis, narrows the arteries and can lead to serious cardiovascular diseases, including heart attack and stroke.

Causes:

Hypercholesterolemia is often multifactorial, stemming from a combination of lifestyle choices and genetic predispositions. The primary factors include diet, lack of physical activity, obesity, and inherited conditions.

• Unhealthy Diet:
  • High in Saturated Fats: Found in red meat, full-fat dairy products, processed foods, and some oils (e.g., coconut oil, palm oil). Saturated fats increase LDL cholesterol.
  • High in Trans Fats: Often found in commercially baked goods, fried foods, and some margarines. Trans fats raise LDL cholesterol and lower high-density lipoprotein (HDL) cholesterol (the “good” cholesterol).
  • High in Dietary Cholesterol: Foods like organ meats, egg yolks, and shellfish. While dietary cholesterol has less impact than saturated/trans fats, excessive intake can contribute.
• Lack of Physical Activity: Sedentary lifestyles can lower HDL cholesterol and increase LDL cholesterol.
• Obesity: Having a high body mass index (BMI) can increase LDL cholesterol and triglyceride levels and decrease HDL cholesterol.
• Smoking: Damages blood vessel walls, making them more likely to accumulate fatty deposits. It also lowers HDL cholesterol.
• Age: Cholesterol levels tend to rise with age in both men and women.
• Genetics (Familial Hypercholesterolemia – FH): An inherited disorder that causes very high LDL cholesterol levels from birth, leading to early onset of heart disease. It’s caused by a defect in a gene that regulates how the body processes cholesterol.
• Certain Medical Conditions:
  • Chronic kidney disease.
  • Diabetes.
  • Hypothyroidism (underactive thyroid).
  • Polycystic ovary syndrome (PCOS).
  • Liver disease.
• Medications: Some medications can raise cholesterol levels, such as certain diuretics, beta-blockers, corticosteroids, and oral contraceptives.

Symptoms:

Hypercholesterolemia typically has no symptoms. High cholesterol doesn’t cause symptoms on its own. It’s often discovered during routine blood tests or when it leads to complications like heart attack or stroke.

• No Direct Symptoms: High cholesterol itself usually does not produce noticeable symptoms.
• Symptoms of Complications: Symptoms only appear when high cholesterol leads to conditions like atherosclerosis, which can cause:
  • Angina: Chest pain or discomfort if arteries supplying the heart are narrowed.
  • Heart Attack: If blood flow to the heart is completely blocked.
  • Stroke: If blood flow to the brain is blocked.
  • Peripheral Artery Disease (PAD): Pain in the legs during walking (claudication) if arteries to the limbs are narrowed.
  • Xanthomas: Fatty deposits under the skin (rare, typically seen in severe genetic forms).
  • Arcus Senilis: A white or gray arc around the cornea of the eye (also rare, can indicate high cholesterol in younger individuals).

Diagnosis:

Hypercholesterolemia is diagnosed through a simple blood test called a lipid panel or lipid profile, which measures different types of cholesterol and triglycerides.

• Lipid Panel (or Lipid Profile) Blood Test: This test is usually done after a 9-12 hour fast to get accurate readings. It measures:
  • Total Cholesterol: The sum of all cholesterol in your blood.
  • Low-Density Lipoprotein (LDL) Cholesterol: Often called “bad” cholesterol. High levels lead to plaque buildup in arteries.
  • High-Density Lipoprotein (HDL) Cholesterol: Often called “good” cholesterol. It helps remove excess cholesterol from the arteries. Higher levels are better.
  • Triglycerides: A type of fat in the blood. High levels, especially when combined with high LDL or low HDL, can increase heart disease risk.
• Screening Guidelines:
  • Adults should typically have their cholesterol checked every 4-6 years, or more frequently if there are risk factors for heart disease.
  • Children and adolescents may be screened if they have a family history of high cholesterol or early heart disease, or if they have certain risk factors.
• Medical History and Physical Exam: The doctor will also consider your overall health, lifestyle, family history, and other risk factors for heart disease.

Treatment:

Treatment for hypercholesterolemia focuses on reducing LDL cholesterol and total cholesterol, increasing HDL cholesterol, and lowering triglycerides to reduce the risk of cardiovascular disease. Lifestyle changes are typically the first line of defense, followed by medications if needed.

• Lifestyle Modifications (First-line treatment):
  • Healthy Diet:
    • Reduce saturated and trans fats.
    • Increase soluble fiber (oats, beans, fruits).
    • Eat omega-3 fatty acid-rich foods (fatty fish like salmon, flaxseeds).
    • Include plant sterols/stanols (fortified foods).
    • Limit dietary cholesterol.
  • Regular Physical Activity: Aim for at least 150 minutes of moderate-intensity aerobic exercise per week.
  • Weight Management: Lose excess weight and maintain a healthy BMI.
  • Smoking Cessation: Quitting smoking can significantly improve HDL cholesterol levels and reduce cardiovascular risk.
  • Limit Alcohol Consumption: Excessive alcohol can increase triglyceride levels.
• Medications:
  • Statins (HMG-CoA Reductase Inhibitors): The most commonly prescribed and effective medications for lowering LDL cholesterol. Examples: atorvastatin (Lipitor), simvastatin (Zocor), rosuvastatin (Crestor).
  • Cholesterol Absorption Inhibitors: (e.g., ezetimibe – Zetia) Reduces the absorption of cholesterol from the small intestine. Often used in combination with statins.
  • PCSK9 Inhibitors: Injectable drugs (e.g., alirocumab – Praluent, evolocumab – Repatha) for very high LDL cholesterol, especially in patients with FH or those who cannot tolerate statins.
  • Bile Acid Sequestrants (Resins): (e.g., cholestyramine, colestipol, colesevelam) Bind to bile acids in the intestine, leading the liver to use more cholesterol to make new bile acids, thus lowering cholesterol.
  • Fibrates: (e.g., gemfibrozil, fenofibrate) Primarily used to lower high triglyceride levels and can slightly increase HDL.
  • Niacin (Nicotinic Acid): Can lower LDL and triglycerides and raise HDL, but often has bothersome side effects like flushing.
  • Omega-3 Fatty Acid Ethyl Esters: (e.g., Lovaza, Vascepa) Prescription-strength omega-3s to lower very high triglyceride levels.

Managing hypercholesterolemia is a lifelong commitment, often involving a combination of lifestyle changes and medications, under the guidance of a healthcare provider, to reduce the risk of heart disease and stroke.