Familial hypercholesterolaemia (FH) is a genetic condition that causes high cholesterol levels from birth. This guide explains the condition in simple terms, including its causes, symptoms, treatments, and how to manage living with it.
What is Familial Hypercholesterolaemia?
Familial hypercholesterolaemia (FH) is an inherited condition that leads to high levels of low-density lipoprotein (LDL) cholesterol in your blood. LDL cholesterol is often referred to as “bad cholesterol” because it can build up in your arteries, increasing the risk of heart disease and stroke. Unlike high cholesterol caused by lifestyle factors, FH is passed down through families and requires medical treatment to manage effectively.
Key Facts About Familial Hypercholesterolaemia
Background
- FH was first described in the 1930s and has since been recognised as one of the most common genetic conditions worldwide.
- If untreated, FH significantly increases the risk of developing cardiovascular diseases like heart attacks at an early age.
Causes
- FH is caused by mutations in one of several genes involved in removing LDL cholesterol from your blood, most commonly the LDLR, APOB, or PCSK9
- These mutations prevent your body from clearing LDL cholesterol efficiently, leading to its accumulation in your bloodstream.
Incidence and Prevalence
- Incidence refers to new cases diagnosed each year, while prevalence refers to how many people have the condition at a given time.
- FH affects approximately 1 in 250 people globally, making it relatively common for a genetic condition.
- In its more severe form (homozygous FH), where two faulty genes are inherited (one from each parent), the prevalence is much rarer—around 1 in 300,000 people.
Who is Affected?
- Age: High cholesterol levels are present from birth, but symptoms or complications often appear later in life if untreated.
- Gender: FH affects both males and females equally.
- Ethnicity: FH occurs worldwide and affects all ethnic groups. However, it may be more common in certain populations such as Afrikaners (South Africa), French Canadians, Lebanese, and Ashkenazi Jews due to genetic factors.
Geographic Distribution
- While FH occurs globally, some regions have higher rates due to genetic “founder effects” (where a small population carries a higher frequency of the mutation).
How Does Familial Hypercholesterolaemia Impact You?
Symptoms
FH itself doesn’t usually cause symptoms until complications arise. However, signs that may suggest FH include:
- Extremely high LDL cholesterol levels (usually above 4.9 mmol/L or 190 mg/dL).
- Fatty deposits under the skin or around the eyes (called xanthomas).
- A white or grey ring around the cornea of the eye (arcus cornealis), especially in younger individuals.
If untreated, FH can lead to early-onset cardiovascular disease, including:
- Heart attacks (myocardial infarction).
- Angina (chest pain caused by reduced blood flow to the heart).
Living With Familial Hypercholesterolaemia
Living with FH requires lifelong management of cholesterol levels to reduce your risk of heart disease and stroke. Regular monitoring and treatment are essential.
Expected Life Expectancy
With early diagnosis and effective treatment, people with FH can live a normal lifespan. Without treatment, individuals with FH are at significantly higher risk of cardiovascular disease at an early age.
Managing and Treating Familial Hypercholesterolaemia
Available Treatments
Treatment for FH focuses on lowering LDL cholesterol levels to reduce your risk of complications:
- Medications:
- Statins: These are the most commonly prescribed drugs for lowering LDL cholesterol by reducing its production in the liver. Examples include atorvastatin and rosuvastatin.
- Ezetimibe: Reduces cholesterol absorption from food in your intestines. It is often used alongside statins.
- PCSK9 Inhibitors: Injectable medications like alirocumab or evolocumab that help your body clear LDL cholesterol more effectively. These are typically used for severe cases or when statins alone aren’t enough.
- Lifestyle Changes: While lifestyle changes alone cannot treat FH due to its genetic nature, they play an important role alongside medication:
- Eat a heart-healthy diet low in saturated fats and trans fats.
- Exercise regularly (aim for at least 150 minutes of moderate activity per week).Avoid smoking and limit alcohol intake.
- Lipoprotein Apheresis: For severe cases (e.g., homozygous FH), this procedure removes LDL cholesterol directly from your blood using a machine.
- Regular Monitoring: Routine blood tests are essential to track your cholesterol levels and adjust treatment as needed.
Ongoing Clinical Research
Research into FH continues to improve understanding and treatment options:
- Gene Therapy: Scientists are exploring ways to correct the genetic mutations responsible for FH.
- New Medications: Trials are underway for drugs targeting different pathways involved in cholesterol metabolism.
- Screening Programmes: Efforts are being made to improve early diagnosis through family screening (cascade screening), which identifies relatives who may also have FH.
Support Groups and Resources
If you or a loved one has been diagnosed with FH, support groups can provide valuable information and emotional support:
- Heart UK – The Cholesterol Charity (org.uk)– Offers resources specifically for individuals with high cholesterol and familial hypercholesterolaemia.
- The British Heart Foundation (BHF) (org.uk)– Provides general support for heart-related conditions.
- FH Foundation (org)– A global organisation dedicated to raising awareness about familial hypercholesterolaemia.
Remember:
This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.