Makindo Medical Notes.com

Overview of Hypercholesterolaemia

Hypercholesterolaemia is a condition characterized by high levels of cholesterol in the blood. It is a significant risk factor for cardiovascular diseases, including coronary artery disease, stroke, and peripheral vascular disease.

Pathophysiology

Cholesterol is a type of lipid that is essential for various bodily functions, including the formation of cell membranes, hormone production, and digestion of fats. However, excessive levels of cholesterol, particularly low-density lipoprotein (LDL) cholesterol, can lead to the buildup of plaques in the arteries, known as atherosclerosis. This can restrict blood flow and lead to cardiovascular events.

Types of Cholesterol

• Low-Density Lipoprotein (LDL) Cholesterol:
  • Often referred to as "bad" cholesterol because high levels can lead to plaque buildup in the arteries.
• High-Density Lipoprotein (HDL) Cholesterol:
  • Often referred to as "good" cholesterol because it helps remove LDL cholesterol from the bloodstream.
• Total Cholesterol:
  • The sum of LDL, HDL, and very low-density lipoprotein (VLDL) cholesterol levels in the blood.
• Triglycerides:
  • A type of fat in the blood that can also contribute to atherosclerosis when levels are high.

Causes of Hypercholesterolaemia

• Genetic Factors:
  • Familial hypercholesterolaemia: A genetic disorder that results in high cholesterol levels from a young age.
• Lifestyle Factors:
  • Unhealthy diet: High intake of saturated fats, trans fats, and cholesterol.
  • Lack of physical activity: Can lead to weight gain and increased LDL cholesterol levels.
  • Smoking: Lowers HDL cholesterol and damages the blood vessels.
  • Excessive alcohol consumption: Can raise triglyceride levels.
• Medical Conditions:
  • Diabetes
  • Obesity
  • Hypothyroidism
  • Chronic kidney disease
  • Liver diseases

Symptoms

Hypercholesterolaemia itself typically does not cause symptoms. It is often detected through routine blood tests. However, long-term hypercholesterolaemia can lead to the development of atherosclerosis and cardiovascular diseases, which may present with the following symptoms:

• Chest pain or angina
• Heart attack
• Stroke
• Peripheral artery disease (leg pain while walking)
• Xanthomas (cholesterol deposits in the skin or tendons)

Diagnosis

• Lipid Profile:
  • Measures total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.
  • Fasting lipid profile is often recommended for accurate measurement.
• Genetic Testing:
  • May be performed if familial hypercholesterolaemia is suspected.

Treatment

• Lifestyle Modifications:
  • Adopting a heart-healthy diet: Low in saturated fats, trans fats, and cholesterol; high in fruits, vegetables, whole grains, and lean proteins.
  • Regular physical activity: At least 150 minutes of moderate-intensity exercise per week.
  • Weight management: Achieving and maintaining a healthy weight.
  • Smoking cessation
  • Limiting alcohol intake
• Medications:
  • Statins: Lower LDL cholesterol and reduce the risk of cardiovascular events.
  • Ezetimibe: Reduces cholesterol absorption in the intestines.
  • Bile acid sequestrants: Bind bile acids in the intestine, leading to reduced cholesterol levels.
  • PCSK9 inhibitors: Monoclonal antibodies that lower LDL cholesterol levels.
  • Fibrates: Lower triglyceride levels and can increase HDL cholesterol.
  • Niacin: Lowers LDL and triglycerides and raises HDL cholesterol (use is limited due to side effects).
• Regular Monitoring:
  • Regular follow-up with healthcare providers to monitor cholesterol levels and adjust treatment as needed.

Complications

• Coronary artery disease
• Heart attack
• Stroke
• Peripheral artery disease
• Chronic kidney disease