What is Familial Hypercholesterolemia?
Familial hypercholesterolemia (FH) may not be a term you hear every day, but it’s an important condition to know about—especially if you or a family member has high cholesterol. FH is a genetic disorder that leads to very high levels of cholesterol in the blood, putting individuals at a higher risk for heart disease, even at a young age. While many people develop high cholesterol due to lifestyle factors like diet and exercise, FH is different because it’s passed down through families and isn’t directly related to your lifestyle choices.
Let’s dive deeper into what FH is, how it’s inherited, and how it differs from more common forms of high cholesterol.
Understanding Familial Hypercholesterolemia
At its core, familial hypercholesterolemia is a genetic condition that affects how your body processes cholesterol. People with FH are unable to remove low-density lipoprotein (LDL) cholesterol—often called “bad” cholesterol—from their bloodstream as effectively as they should. This leads to an accumulation of cholesterol in the blood, which can clog arteries and increase the risk of heart attacks and other cardiovascular diseases.
Cholesterol itself isn’t inherently bad—it’s actually necessary for building cells and making certain hormones. But like most things, too much of it can cause problems. In people with FH, the body’s inability to clear LDL cholesterol efficiently means they often have dangerously high levels even if they’re eating a healthy diet and getting plenty of exercise.
Genetic Origins of Familial Hypercholesterolemia
The key difference between familial hypercholesterolemia and other forms of high cholesterol lies in its genetic roots. FH is inherited in an autosomal dominant pattern, which means that if one of your parents has the condition, there’s a 50% chance you’ll inherit it, too. This is what makes FH stand apart from other forms of high cholesterol, which are typically caused by a combination of factors, including poor diet, lack of exercise, and age.
There are two types of FH:
- Heterozygous FH (HeFH): This is the more common form, affecting about 1 in 250 people worldwide. If you have HeFH, you inherited one defective gene from one parent. People with HeFH often develop high cholesterol at a young age, and if left untreated, they can develop heart disease in their 30s, 40s, or 50s.
- Homozygous FH (HoFH): This is a much rarer and more severe form of the condition, affecting approximately 1 in 160,000 to 1 in 300,000 people. HoFH occurs when a person inherits defective FH genes from both parents. People with HoFH have extremely high cholesterol levels and often develop cardiovascular disease during childhood or adolescence.
How Does FH Differ from Other Forms of High Cholesterol?
Now, let’s talk about how familial hypercholesterolemia differs from more typical cases of high cholesterol, which are often referred to as “acquired” or “primary” hypercholesterolemia. Here are some key differences:
1. Cause:
Most people develop high cholesterol due to lifestyle factors, such as eating a diet high in saturated fats, not getting enough physical activity, or carrying excess weight. In contrast, FH is entirely genetic. You can be eating the healthiest diet, exercising regularly, and still have high cholesterol if you have FH. It’s not something you can control with lifestyle changes alone.
2. Cholesterol Levels:
People with FH have significantly higher cholesterol levels than those with lifestyle-related high cholesterol. For example, a person with typical high cholesterol might have LDL levels that are slightly above normal, whereas someone with FH could have LDL levels that are two to three times higher. For people with HoFH, LDL levels can be more than six times the normal range.
3. Age of Onset:
High cholesterol due to diet or other lifestyle factors typically develops later in life—often in the 40s, 50s, or even later. With FH, elevated cholesterol levels are present from birth, and the consequences can begin to show up much earlier. Many people with FH experience heart attacks or other cardiovascular issues in their 30s or 40s if the condition isn’t diagnosed and treated early.
4. Family History:
A family history of high cholesterol or early heart disease is one of the biggest red flags for FH. If multiple members of your family have had heart attacks, strokes, or other cardiovascular issues—especially at a young age—it’s worth discussing the possibility of FH with your doctor. Lifestyle-related high cholesterol typically doesn’t have such a strong family history component.
Symptoms and Diagnosis of Familial Hypercholesterolemia
One of the tricky things about FH is that it doesn’t usually cause obvious symptoms. You can have very high cholesterol levels without feeling any different. In some cases, people with FH may develop physical signs of the condition, such as xanthomas, which are fatty deposits that form under the skin or around the eyes, or corneal arcus, a white or gray ring around the colored part of the eye.
Because FH often goes unnoticed until a cardiovascular event occurs, it’s crucial to get regular cholesterol screenings, especially if you have a family history of heart disease. Blood tests can measure your LDL cholesterol levels, and if they’re abnormally high, your doctor may suggest genetic testing to confirm a diagnosis of FH.
Treatment and Management
Managing FH is different from managing lifestyle-related high cholesterol. While diet and exercise are still important, they’re usually not enough to bring cholesterol levels down to a safe range. Most people with FH will need to take medications, such as:
- Statins: These are the most commonly prescribed drugs for lowering cholesterol. Statins help reduce LDL levels and lower the risk of heart disease.
- PCSK9 inhibitors: These are newer medications that can significantly lower LDL levels by helping the body remove more cholesterol from the bloodstream.
- Ezetimibe: This drug helps reduce the amount of cholesterol absorbed from food.
In more severe cases, people with HoFH may need LDL apheresis, a procedure that physically removes LDL cholesterol from the blood.
The Importance of Early Detection
One of the most important things to understand about FH is that early detection is key. If diagnosed early, FH can be managed effectively, reducing the risk of heart disease and other complications. This is why regular cholesterol checks and understanding your family’s medical history are so important.
Familial hypercholesterolemia may sound intimidating, but with the right treatment and management, people with FH can live healthy, active lives. If you or someone in your family has been diagnosed with FH, working closely with a healthcare provider to monitor cholesterol levels and reduce the risk of heart disease is essential. Don’t hesitate to ask your doctor about cholesterol testing, especially if you have a strong family history of heart issues—early detection can make all the difference.ete it, then start writing!
