Familial Hypercholesterolemia: Managing High Cholesterol from a Genetic Perspective

Introduction

Familial hypercholesterolemia (FH) is an inherited disorder characterised by extremely high levels of low-density lipoprotein (LDL) cholesterol in the blood from birth. This genetic condition significantly increases the risk of premature heart disease.

Understanding familial hypercholesterolemia causes, symptoms, types, and treatment options is crucial for managing this condition and protecting your cardiovascular health. In this article, we'll explore the key aspects of FH and provide guidance on how to navigate this genetic form of high cholesterol.

What is familial hypercholesterolemia?

Familial hypercholesterolemia is a genetic disorder that impairs the body's ability to remove LDL cholesterol from the blood. This leads to a buildup of LDL cholesterol, often referred to as 'bad' cholesterol, which can accumulate in the arteries and increase the risk of heart disease. FH is an inherited condition, meaning it is passed down through families.

How common is familial hypercholesterolemia?

FH affects approximately 1 in 250 individuals worldwide. However, many cases remain undiagnosed. It is estimated that only 10% of people with FH are aware of their condition. This highlights the importance of understanding the signs and symptoms of FH and undergoing appropriate screening.

What does familial hypercholesterolemia do to our body?

The persistently high levels of LDL cholesterol in FH can lead to:

• Buildup of plaque in the arteries (atherosclerosis)
• Narrowing of the arteries
• Increased risk of heart attack and stroke
• Development of xanthomas (fatty deposits under the skin)

What are the symptoms of familial hypercholesterolemia?

Familial hypercholesterolemia symptoms may include:

1. High LDL cholesterol levels detected through blood tests
2. Family history of high cholesterol or early heart disease
3. Xanthomas, yellowish cholesterol deposits in the skin or tendons
4. Corneal arcus, a whitish or grayish ring around the cornea of the eye

What causes familial hypercholesterolemia?

Familial hypercholesterolemia causes lie in genetic mutations that affect the body's ability to remove LDL cholesterol from the blood. The most common mutations occur in the LDL receptor gene (LDLR), which helps remove LDL cholesterol from the bloodstream. Other genes, such as APOB and PCSK9, can also be involved. These genetic changes are inherited from one or both parents.

What are the types of familial hypercholesterolemia?

There are two main familial hypercholesterolemia types:

1. Heterozygous FH (HeFH): Inherited from one parent. LDL cholesterol levels are 2-3 times higher than normal. HeFH affects about 1 in 200 to 1 in 500 people.
2. Homozygous FH (HoFH): Inherited from both parents. LDL cholesterol levels are 3-6 times higher than normal. HoFH is rare, affecting about 1 in 1 million people.

How is familial hypercholesterolemia diagnosed?

Familial hypercholesterolemia diagnosis involves:

• Assessing personal and family history of high cholesterol and early heart disease
• Physical examination for signs like xanthomas and corneal arcus
• Blood tests to measure LDL cholesterol levels
• Genetic testing to identify specific mutations

What tests will be done to diagnose familial hypercholesterolemia?

A familial hypercholesterolemia test typically includes:

• Lipid profile blood test to measure LDL cholesterol, total cholesterol, HDL cholesterol, and triglycerides
• Genetic testing to detect mutations in the LDLR, APOB, or PCSK9 genes
• Cardiac screening tests, such as an electrocardiogram (ECG) or stress test, to assess heart health

How is familial hypercholesterolemia treated?

Familial hypercholesterolemia treatment aims to lower LDL cholesterol levels and reduce the risk of heart disease. Treatment options include:

1. Medications:
   • Statins to reduce LDL cholesterol production and increase its removal
   • Ezetimibe to decrease cholesterol absorption in the intestine
   • PCSK9 inhibitors to allow more LDL cholesterol to be removed from the blood
   • Bile acid sequestrants to remove more cholesterol from the body
2. Lifestyle changes:
   • Adopting a heart-healthy diet low in saturated and trans fats
   • Increasing physical activity
   • Maintaining a healthy weight
   • Quitting smoking

What to avoid in familial hypercholesterolemia?

If you have FH, it's important to avoid:

• Foods high in saturated and trans fats, such as fatty meats, full-fat dairy products, and fried foods
• Smoking and excessive alcohol consumption
• Sedentary lifestyle and lack of regular exercise

What medications are used in familial hypercholesterolemia?

The primary medications used in familial hypercholesterolemia treatment are:

• Statins (e.g., atorvastatin, rosuvastatin)
• Ezetimibe
• PCSK9 inhibitors (e.g., evolocumab, alirocumab)
• Bile acid sequestrants (e.g., cholestyramine, colesevelam)

Heterozygous familial hypercholesterolemia treatment

For individuals with HeFH, treatment typically involves:

• High-intensity statin therapy to lower LDL cholesterol
• Addition of ezetimibe or PCSK9 inhibitors if LDL cholesterol remains high despite statin therapy
• Lifestyle modifications, including a heart-healthy diet and regular exercise

What are the side effects of the treatment?

Possible side effects of FH medications include:

• Muscle pain or weakness (statins)
• Digestive issues, such as constipation or diarrhea (bile acid sequestrants)
• Injection site reactions (PCSK9 inhibitors)
• Liver enzyme abnormalities (statins)

Homozygous familial hypercholesterolemia treatment

HoFH requires more aggressive treatment, which may include:

• Combination therapy with high-dose statins, ezetimibe, and PCSK9 inhibitors
• LDL apheresis, a procedure to filter LDL cholesterol from the blood
• Liver transplantation in severe cases

How can I reduce my risk?

To reduce your risk of complications from FH:

1. Take medications as prescribed by your doctor
2. Follow a heart-healthy diet low in saturated and trans fats
3. Engage in regular physical activity (at least 150 minutes per week)
4. Maintain a healthy weight
5. Avoid smoking and limit alcohol consumption
6. Undergo regular cholesterol screenings and follow-up with your healthcare provider for heart disease.

What can I expect if I have familial hypercholesterolemia?

If you have FH, you can expect:

• Lifelong management of high cholesterol through medications and lifestyle changes
• Regular monitoring of cholesterol levels and heart health
• Possible complications, such as early heart disease, if left untreated
• Improved outcomes with early diagnosis and appropriate treatment

How long does familial hypercholesterolemia last?

FH is a genetic condition that lasts a lifetime. While it cannot be cured, it can be effectively managed with medications, lifestyle changes, and regular monitoring. Early diagnosis and treatment are crucial to prevent complications and improve the long-term outlook.

What's the outlook for familial hypercholesterolemia?

The outlook for FH depends on factors such as the type of FH, the severity of cholesterol elevation, and the presence of other risk factors. Early diagnosis and treatment can greatly improve the prognosis. With appropriate management, many people with FH can significantly reduce their risk of heart disease and maintain good cardiovascular health.

When to see a doctor?

You should see a doctor for FH screening if you:

• Have a family history of high cholesterol or early heart disease (before age 55 in men or 65 in women)
• Notice physical signs of FH, such as xanthomas or corneal arcus
• Are concerned about your cholesterol levels or heart health
• Experience symptoms of heart disease, such as chest pain or shortness of breath

Conclusion

Familial hypercholesterolemia is a genetic condition that requires lifelong management to reduce the risk of heart disease. Understanding the causes, symptoms, types, and treatment options for FH is essential for effectively managing this condition. By working closely with your healthcare provider, undergoing recommended screenings, and adopting heart-healthy lifestyle habits, you can take control of your cholesterol levels and protect your cardiovascular health.

At Metropolis Healthcare, we understand the importance of early detection and management of conditions like familial hypercholesterolemia. Our state-of-the-art diagnostic laboratories offer comprehensive lipid profile testing and genetic testing for FH. With our user-friendly Metropolis TruHealth app, you can easily schedule at-home sample collection, access your test results, and take proactive steps towards a healthier future. Remember, prioritising your health is within reach with the right knowledge and medical care. Trust Metropolis Healthcare to be your partner in your journey towards optimal health.