Definition and Overview

Hypercholesterolemia is a medical condition characterised by high levels of cholesterol in the blood. It is cause for concern because it increases one’s risk of stroke and heart attack.

Unbeknownst to many, cholesterol is a naturally occurring substance produced by the liver. This waxy, fat-like substance is a building block for various hormones and cell walls. It also plays an important role in the production of bile acids, which the body uses to break down and digest fats.

The liver produces all cholesterol the body needs, but it can also be derived from food sources including meats, fish, poultry, milk products, and eggs.

According to the National Heart, Lung, and Blood Institute (NHLBI), the ideal amount of cholesterol in the blood is less than 200mg/dl. Anything more than 240 mg/dl is considered high and puts a person at risk of heart disease. The amount of cholesterol in a person’s blood is measured through a blood test.

There are two types of cholesterol, namely:

  • Low-density lipoproteins (LDL) - Also called “bad” cholesterol, this contributes to fatty buildups in arteries that can obstruct blood flow.

  • High-density lipoproteins (HDL) - Absorbs and carries cholesterol back to the liver, which flushes it from the body. A healthy HDL cholesterol level can help minimise the risk of stroke and heart attack.

Triglycerides, which are the most common type of fat in the body, can also contribute to the development of heart disease. When combined with high LDL or low HDL cholesterol levels, it increases the risk of fatty buildups in the artery walls.

Causes of Condition

Hypercholesterolemia can be caused by environmental and genetic factors.

Pure hypercholesterolemia or familial hypercholesterolemia is due to a genetic abnormality. It is caused by a genetic mutation on chromosome 19 that prevents the liver from regulating cholesterol levels.

Familial hypercholesterolemia can be either heterozygous familial hypercholesterolemia (inherited from one parent) or homozygous familial hypercholesterolemia (inherited from both parents).

The condition can also be caused by a diet rich in saturated fats, which mainly come from animal sources such as dairy and meat products. The American Heart Association recommends limiting daily intake of saturated fats to no more than 13grams per day for people who need about 2,000 calories daily. It also encourages eating a healthy, balanced diet that consists of vegetables, fruits, whole grains, poultry, nuts, and low-fat dairy products.

Certain factors that can increase one’s risk of developing the condition include:

  • Diabetes mellitus type 2

  • Hypothyroidism

  • Cushing’s syndrome

  • Anorexia nervosa

  • Age - Most people diagnosed with hypercholesterolemia are men over 45 and women over 55 years old.

  • A family history of coronary artery disease

  • Smoking

  • High blood pressure

Key Symptoms

Hypercholesterolemia normally does not produce symptoms. Thus, many are unaware until they are diagnosed with cholesterol-related atherosclerosis. Atherosclerosis is a disease characterised by plaque build-ups that prevent normal blood flow in an artery. This increases a patient's risk of coronary artery disease and stroke as the blood supply to their heart and brain is reduced.

Patients with familial hypercholesterolemia usually experience the following symptoms:

  • Angina or chest pain

  • Fatty skin deposits in the tendons, knees, buttocks, and elbows

  • Xanthelasmas or cholesterol deposits around the eyelids

  • Corneal arcus or cholesterol deposits around the cornea

Who to See and Types of Treatments Available

Hypercholesterolemia is diagnosed with lipoprotein panel, a blood test that checks the levels of both bad and good cholesterol as well as triglycerides level. The test provides information that can indicate if a patient has low, moderate, or high risk of developing heart disease. When assessing the patient’s risk, other factors, such as existing health problems (including diabetes and high blood pressure), body mass index (BMI), and hypercholesterolemia symptoms, are also taken into consideration.

Hypercholesterolemia treatment focuses on lowering a person’s bad cholesterol levels with lifestyle changes and medicines. Anyone whose LDL cholesterol level is more than 200mg/dl is encouraged to adopt a healthy lifestyle by combining a healthy diet, effective weight management, and regular exercise. Cholesterol-lowering medicines can also be prescribed. These include:

  • Statins - These drugs work by reducing the production of cholesterol in the liver. Hence, they delay the onset of atherosclerosis or keep it from progressing. Sometimes, statins are combined with bile acid sequestrants, which work by reducing the amount of bile acids that goes back to the liver.

  • Nicotinic acid - Reduces the production of LDL lipoproteins and triglycerides as well as increases HDL cholesterol levels. However, this medicine may not be recommended if the patient has glaucoma, active stomach ulcer, gout, uncontrolled type 2 diabetes, and clotting disorders.

  • Ezetimibe - A lipid-lowering agent that works by blocking the intestine from absorbing cholesterol.

Adopting a healthy lifestyle and taking medications mentioned above can be very effective in the management of hypercholesterolemia. However, the effectiveness of these treatments can vary from person to person. On average, exercise and a healthy diet can lower a person’s LDL cholesterol levels by up to 10% while medications can lower them by up to 50%.

References:

  • Anderson JW, Davidson MH, Blonde L, et al. Long-term cholesterol-lowering effects on Psyllium as an adjunct to diet therapy in the treatment of hypercholesterolemia. Am J Clin Nutr. 2000a;71:1433-1438.

  • Anderson JW, Allgood LD, Lawrence A, et al. Cholesterol-lowering effects of psyllium intake adjunctive to diet therapy in men and women with hypercholesterolemia: meta-analysis of 8 controlled trials. Am J Clin Nutr. 2000b;71:472-479.

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