Hypercholesterolemia

What is Hypercholesterolemia?

Lipoprotein disorders are significant because lipoproteins, which are a mix of fats and proteins, play a role in the process that leads to heart and blood vessel diseases, commonly known as atherosclerosis. These disorders can increase the risk of atherosclerotic cardiovascular disease (ASCVD), which is a term for diseases caused by a buildup of sticky cholesterol plaque in the walls of your arteries.

For patients already diagnosed with ASCVD, lowering their cholesterol can consistently reduce their risk of death from heart disease and lower the chances of further heart-related incidents. This is true for both men and women, and for middle-aged and older patients. Even among patients who do not currently have heart disease, using drugs called statins to lower cholesterol can help reduce future ASCVD events. If a patient’s triglyceride (a type of fat found in your blood) levels are above 1000 mg/dl, they face an increased risk of developing acute pancreatitis, which is a sudden inflammation of the pancreas.

Lipoproteins transport cholesterol, triglycerides, and fat-soluble vitamins in the blood to the necessary organs. In the past, treatments for lipoprotein disorders were left to specialist doctors. However, statins’ benefits, particularly in reducing heart-related incidents, have allowed general practitioners and internal medicine physicians to treat high cholesterol conditions. Despite these advancements, there is still concern about the large number of patients who could benefit from these cholesterol-lowering drugs but are not receiving appropriate treatment. Therefore, proper and timely examination, diagnosis, and treatment of lipoprotein disorders are crucial in the practice of medicine.

What Causes Hypercholesterolemia?

High cholesterol can be considered to be when you have a LDL-cholesterol (a type of “bad” cholesterol) level of 190 mg/dL or more. It can also be considered high if you have a level of more than 160 mg/dL and one major risk factor, or more than 130 mg/dL with two risk factors related to heart and blood vessel disease.

Significant risk factors include being a man over 45 years old or a woman over 55; having a close family member who suffered from early onset heart disease; high blood pressure; diabetes; smoking; and having low levels of HDL-cholesterol (the “good” cholesterol) – less than 40 mg/dL in men and less than 55 mg/dL in women.

There can be both genetic and acquired causes of high cholesterol. Familial hypercholesterolemia, a common genetic disorder, is caused by changes in the LDL-receptor gene. This leads to very high levels of LDL-cholesterol in the blood. The disorder is caused by a malfunction in the gene that controls the LDL receptor. This malfunction means that LDL-cholesterol isn’t effectively removed from the bloodstream. When you have two copies of this faulty gene, your LDL-cholesterol levels will be much higher than someone with only one.

Other genetic causes of familial hypercholesterolemia may involve issues with apolipoprotein B, a protein that helps with the binding of LDL-cholesterol, or a mutation in the gene PCSK9, which controls how quickly LDL receptors are removed from your body.

These genetic causes are most commonly passed down in a “dominant” fashion. This means that you only need to inherit the altered gene from one parent to be affected.

Despite the genetic reasons, the most common cause of high cholesterol is a combination of genetic factors along with a lack of physical activity and a diet full of saturated and trans-fatty acids. It can also be due to other health conditions or medications. For example, hypothyroidism, nephrotic syndrome, certain liver disorders, pregnancy and certain drugs like cyclosporine, thiazide, and diuretics can increase cholesterol levels.

When LDL-cholesterol levels are high, LDL particles can build up in your blood vessels, causing inflammation and the formation of a “fatty streak.” This can worsen over time to form a fibrous plaque, a hard spot in your vessel. If this plaque ruptures, it can cause a heart attack or stroke.

Risk Factors and Frequency for Hypercholesterolemia

According to the Center for Disease Control and Prevention (CDC), nearly a third of adults in the United States, which is roughly 73.5 million people, have high levels of bad cholesterol (LDL-C). These individuals are twice as likely to develop heart disease compared to those with normal cholesterol levels. However, less than half of these people are getting treatment to lower their bad cholesterol.

Familial hypercholesterolemia, a genetic disorder affecting cholesterol levels, is rare but can be more common in specific groups like French Canadians, Lebanese, and Afrikaners. In the U.S., Hispanic males generally have the highest bad cholesterol levels, followed by African Americans and white males. Interestingly, high LDL-C is overall more common in females than in males.

• About 31.7% of adults in the United States have high bad cholesterol levels.
• These people are twice as likely to develop heart disease as those with normal cholesterol levels.
• Only around 48.1% of these individuals are receiving appropriate treatment.
• Familial hypercholesterolemia, a genetic disorder, is rare but more prevalent in some groups.
• In the U.S., Hispanic males typically have the highest levels of bad cholesterol, followed by African Americans and white males.
• Despite this, high bad cholesterol levels are generally more common in females than in males.

Signs and Symptoms of Hypercholesterolemia

When assessing a patient’s health, the information from their medical background and physical examination are very valuable. This is especially true when it comes to assessing the risk of cardiovascular diseases linked to atherosclerosis, which is the buildup of fats and cholesterol in the artery walls. Part of this assessment can involve constructing a family tree to see if there is a history of these diseases in the family.

It’s also crucial to ask about factors that can contribute to heart disease, such as smoking, diabetes, diet choices, level of physical activity, medications being taken, and any symptoms of heart disease. These symptoms may include chest pain, fatigue, and issues with walking or balance.

When conducting a physical examination, doctors look out for signs of various conditions that can contribute to high cholesterol. This includes checking for signs of an underactive thyroid (like a slow heartbeat, dry skin, and slowed-down reflexes), nephrotic syndrome (swelling and accumulation of fluid in the abdomen), and cholestasis (yellowing of the skin and enlargement of the liver).

• A history of heart disease in the family
• Factors such as smoking, diabetes, diet, physical activity, and medications
• Signs of heart disease like chest pain, fatigue, and issues with walking or balance
• Signs of an underactive thyroid like a slow heartbeat, dry skin, and slowed-down reflexes
• Signs of nephrotic syndrome like swelling and accumulation of fluid in the abdomen
• Signs of cholestasis like the yellowing of the skin and an enlarged liver

In patients with high cholesterol, it’s important to feel all their pulses and listen for any abnormal sounds in the carotid and femoral arteries. It’s also essential to check for skin changes like xanthomas, which are bumps under the skin caused by cholesterol buildup and can occur on the Achilles tendon and on the hands, xanthelasmas, which are cholesterol deposits on the eyelids, and arcus senilis, which is a gray or white ring around the cornea of the eye in a patient younger than 50. In patients with suspected hereditary high cholesterol (familial hypercholesterolemia), a careful heart examination for narrowing of the aortic valve due to cholesterol deposit (a condition called supra-valvar aortic stenosis) is necessary.

Testing for Hypercholesterolemia

All adults over the age of 40 should get their blood lipid levels checked. This test is best performed after fasting for 10 to 12 hours overnight. The test, also known as a lipid profile, measures your total cholesterol, triglycerides (a type of fat), and HDL-cholesterol (often referred to as ‘good’ cholesterol). It also calculates your LDL-cholesterol (or ‘bad’ cholesterol) using a formula known as the Friedewald Equation.

This equation is accurate as long as the blood test is done after you’ve been fasting and if your triglyceride level is not above 200 mg/dL. For those with a triglyceride level higher than 400mg/dL, the equation isn’t considered reliable because high triglycerides affect part of the equation. However, there are other ways to directly measure your LDL-cholesterol.

If your test shows high cholesterol levels, the doctor may also suggest other tests to rule out problems that could be causing high cholesterol, such as an underactive thyroid (hypothyroidism), diabetes, kidney disease (nephrotic syndrome), or a liver condition (cholestasis).

If your lipid profile turns out to be abnormal (like having high cholesterol), it’s advisable to get the test repeated within two weeks. This is to confirm the initial results before considering starting on a long-term cholesterol-lowering treatment plan.

The following individuals are recommended to have regular lipid screening:

• Men over 35 years
• Women over 45 years
• Individuals with diabetes
• People who use tobacco
• Those with a family history of heart disease
• People with a personal history of heart disease or peripheral vascular disease (disease in the blood vessels outside the heart)
• Individuals with a body mass index (BMI) over 30 (indicative of obesity)
• People with high blood pressure (hypertension)

Treatment Options for Hypercholesterolemia

The key to managing high cholesterol involves a mix of a healthy lifestyle and medication. Maintaining a healthy weight, being smoke-free, exercising 150 minutes per week, and following a diet that is low in saturated and trans-fats and high in fiber, fruits, vegetables and fatty fish can help. Natural plant sterols can also help in lowering bad cholesterol levels.

Medications, such as statins, are often prescribed to help lower bad cholesterol levels by up to 50% and reduce the chance of heart disease. Although these medicines are effective, they can have some side effects like liver enzyme elevation, muscle discomfort and the onset of diabetes. If liver enzymes increase too much, a lower dose or a different statin medication may be used. Severe muscle pain is a cause for concern as it can sometimes lead to a serious condition known as rhabdomyolysis which can affect the kidneys severely. Some other medications, like certain antibiotics, antifungals and protease inhibitors can increase this risk.

Some people with high cholesterol may not respond as well to statins, or they might need additional medicines to control their cholesterol levels. In these situations, cholesterol absorption inhibitors or bile acid sequestrants are usually added to the treatment regimen due to their safety when used with statins. Niacin, a type of Vitamin B, can also be added for cholesterol control.

A small portion of patients with extremely high cholesterol levels, over 200 mg/dl (with heart disease) or over 300 mg/dl (without heart disease), might be candidates for LDL apheresis, a procedure that clears bad cholesterol from the blood. In some cases, a newer class of drugs called PCSK9 inhibitors could be used to lower bad cholesterol by up to 60% on top of the reduction achieved by statins. This medication is mainly used for patients with a condition called familial hypercholesterolemia and for those not reaching their cholesterol goals with statin therapy.

The goal of treating high cholesterol is to reduce bad cholesterol to less than 100 mg/dL for most people, and further reduce it to less than 70 mg/dL or a 50% reduction for those with heart disease. For everyone else, a 30-50% reduction in bad cholesterol is the target. High cholesterol is a significant health issue, and it’s important for healthcare professionals to encourage effective treatments such as statins, which are cost-effective as they are mainly available in generic forms.

What else can Hypercholesterolemia be?

These are some common health conditions:

• Smoking
• Hypothyroidism
• Diabetes mellitus
• Nephrotic syndrome
• Alcoholism

What to expect with Hypercholesterolemia

Hypercholesterolemia, or high cholesterol, mainly increases the risk of heart-related issues. However, the development and use of statins, which are drugs designed to lower cholesterol levels, has significantly reduced the death rates linked to high cholesterol in many studies. Currently, reducing cholesterol levels is a beneficial strategy to avoid heart disease before it starts.

Possible Complications When Diagnosed with Hypercholesterolemia

Common Conditions:

• Heart Disease
• Stroke
• Disease affecting the blood vessels outside the heart and brain

Recovery from Hypercholesterolemia

Recommendations for your diet are as follows:

* The total amount of fat in your food should not be more than 30% of your total energy intake
* Saturated fats, which are typically found in animal products and processed food, should make up less than 7% of your total calorie intake
* Carbohydrates, which are your body’s main source of energy, should make up 60% of your total calories

Although regular exercise might not directly lower your “bad” cholesterol (LDL-C), aerobic forms of exercise like running and swimming can help your body to use insulin more effectively, reduce your triglyceride levels (a type of fat found in your blood) and increase your “good” cholesterol (HDL).