Familial hypercholesterolemia (FH) is an inherited condition that causes your body to store unused cholesterol.
Cholesterol is a wax-like substance that helps to make hormones, cell membranes, and fat-digesting compounds in your body. It’s produced by your body, and you also get it from some of the food you eat. Your body needs cholesterol, but too much can cause negative health effects.
If you have untreated FH, your body stores unused cholesterol rather than getting rid of it through your liver. The cholesterol builds up in your blood and can lead to heart disease.
There’s no cure for FH, but the condition can be treated. An early diagnosis and treatment plan can improve your outlook and increase your life expectancy.
Your life expectancy with FH depends on the type of FH you have and whether or not you get treatment. Without treatment, life expectancy with FH is reduced. Some research suggests that life expectancy is 16 years lower when FH goes undiagnosed.
There are two forms of FH:
- Heterozygous FH. People who inherit one gene mutation from a parent have heterozygous FH. Without treatment, heterozygous FH can cause chest pain and heart attack as early as the mid-30s.
- Homozygous FH. People who inherit a gene mutation from both parents have homozygous FH. This form of FH is more rare and can progress faster than heterozygous FH. Without treatment, it can cause symptoms in childhood and death in some people before they turn 20.
The most common cause of death in people with FH is a sudden cardiac event. With FH, the buildup of low-density lipoprotein (LDL) cholesterol in your blood leads to early onset heart disease, which means you have an increased chance of having a heart attack at a young age.
Your outlook with FH is greatly improved if you get an accurate diagnosis and follow the treatment plan provided by your healthcare provider. This means:
- taking your medication as prescribed
- exercising regularly
- preventing weight gain
- quitting smoking, if you smoke
- eating a healthy, balanced diet
All of these measures increase lifespan in people with FH.
Hypercholesterolemia and FH are both conditions involving high LDL cholesterol, but FH is inherited due to a specific gene mutation. Hypercholesterolemia is genetic and passed through families, but it doesn’t arise from a specific gene mutation.
A person with hypercholesterolemia has increased LDL cholesterol levels that occur because of lifestyle factors, such as:
- an unhealthy diet
- lack of exercise
Anyone can develop hypercholesterolemia if they acquire LDL cholesterol faster than their liver can remove it from their blood.
Hypercholesterolemia can be treated with:
- dietary changes
- weight management
- regular exercise
- smoking cessation
FH is a lifelong condition that occurs because of a genetic mutation that prevents your liver from removing the extra LDL cholesterol from your body.
People who have FH have inherited a genetic mutation from one or both of their parents. The treatment for FH includes lifestyle changes and medication, which starts right at diagnosis and continues for life.
If you have FH, lifestyle changes alone aren’t enough to lower your LDL cholesterol and reduce your risk of heart disease. You also need to take medication as prescribed by your doctor, such as statin therapy.
Sometimes, FH is identified after lifestyle changes alone haven’t worked to lower LDL cholesterol. Your doctor will use further cholesterol testing and assess family history and physical symptoms like cholesterol skin lumps to confirm your diagnosis of FH.
FH has no cure, but it’s treatable. Life expectancy with FH is lower without treatment, but the sooner you receive a correct diagnosis and start medication, the better your outlook and life expectancy.
FH is inherited from one or both of your parents and requires treatment with medication to lower your LDL cholesterol.
Hypercholesterolemia is related to your genes, but doesn’t occur because of a specific gene mutation. It can be diagnosed in anyone, occurs because of lifestyle factors, and can be treated without medication.
If you have FH, you can lower your cholesterol using medication prescribed by your doctor. The most common treatment plan is statin therapy. Your doctor may also suggest lifestyle changes along with your medication.