Most people are aware that too much cholesterol is dangerous and what we eat is a contributing factor, but people are now wondering if it can be hereditary. The answer is yes: it’s called familial hypercholesterolemia.
Perhaps you have been watching what you eat but it doesn’t seem to make a difference. In other words, you may be vigilant about how much bad cholesterol you consume through foods yet still battle with high cholesterol.
Familial hypercholesterolemia is a genetic disorder that causes individuals to have higher than normal levels of low-density lipoproteins (LDL), which are considered bad cholesterol. They are bad because they contribute to health problems like heart disease. In fact, research suggests that familial hypercholesterolemia is responsible for up to 10 percent of early onset heart disease.
Is high cholesterol inherited?
Almost one in three adults have high cholesterol. One in about 300 has familial hypercholesterolemia or inherited cholesterol. Anyone who has one of the 1,500 possible gene variations that can cause familial hypercholesterolemia has a 50 percent chance of passing that gene on to their kids. Gene variants that cause the condition involve proteins called LDL receptors—this protein gets rid of LDL. However, in most people who have familial hypercholesterolemia, the protein doesn’t do what it is supposed to.
Diet and exercise are often the prescriptions for people who suffer from high cholesterol, but even with such adjustments, cholesterol can remain high in some people due to their genes. Obesity, a high waist measurement, and a high waist-to-hip ratio are all risk factors for high cholesterol and they can be due to genetics. There are also people who have a genetic predisposition to overeating. In some individuals, this can lead to diabetes, which itself is a risk factor for high cholesterol.
When thinking about familial hypercholesterolemia and genetics, you have to look beyond actual genes and consider inherited lifestyle as well. For instance, we all tend to pick up the habits of our parents or whoever raised us. The eating habits of the people you grow up with influence your food habits. Furthermore, even before you are born, your parents’ eating habits can affect you. Studies indicate that pregnant women who eat certain flavors have found that their babies are likely to want to eat those same flavors later on in their lives.
Familial hypercholesterolemia genetics and inheritance pattern
Usually, small particles of LDL cholesterol attach to receptors on specific cells and are absorbed. A gene known as LDLR controls the receptors. People with familial hypercholesterolemia have a mutation in their LDLR gene, which means LDL cholesterol isn’t getting absorbed the way it should and it remains to circulate in the blood. There are also instances where inherited high cholesterol is caused by a mutation in what are known as APOB or PCSK9 genes. In most cases, the gene is inherited from just one parent.
When one parent has a mutated gene and one normal gene in the pair, offspring have a 50 percent chance of inheriting the mutated gene. About 50 percent of males who inherit the gene go on to develop heart disease before they reach the age of 50 and 85 percent will have a heart attack before 60. Females who inherit the mutation are at lower risk. Around 12 percent will develop coronary artery disease before age 50. That number does rise as a woman ages. For example, just over 70 percent of women will experience heart disease by age 70 if they have the mutated gene.
It is rare, but if both parents carry a mutated gene, their children have a 25 percent chance of inheriting both genes containing the mutations. These children will likely develop coronary artery disease early in life, sometimes in childhood. Sadly, this type of familial hypercholesterolemia is resistant to treatment.
Familial hypercholesterolemia symptoms
Now that you have a sense of how you can inherit high cholesterol, you are no doubt wondering about familial hypercholesterolemia symptoms. Well, some people might not even realize that they have high blood cholesterol, but others do have signs and symptoms, including those listed below.
- Family history of disorder
- Family history of heart attack at early age
- High cholesterol that resists treatment in one or both parents
- Cholesterol deposits on knees, elbows, or buttock
- Lumps of cholesterol near inner corner of the eye (yellow colored)
- Pale white ring around the iris (colored part of eye)
- Chest pain
- Heart attack early in life
- High blood cholesterol levels
What happens if high cholesterol goes untreated?
It is important to get treatment for high cholesterol since it causes a dangerous accumulation of deposits on the walls of arteries. The deposits—or plaques—reduce blood flow and can lead to complications such as chest pain, heart attack, and stroke. When plaques tear or rupture, a blood clot can form, preventing the flow of blood and stopping your heart, which is when you can have a heart attack. Stroke is similar to a heart attack—it occurs if blood flow to part of the brain is blocked by a blood clot.
Diagnosing high cholesterol
Familial hypercholesterolemia is considered asymptomatic, but to really determine if you have high cholesterol, you will need a blood test. A doctor will check your blood lipid levels. This is a common procedure that looks at total cholesterol, LDL (bad) cholesterol, HDL (good) cholesterol, and triglycerides. You will likely be told to avoid drinking or eating (except water) for at least 10 hours before the blood is drawn. This will give doctors the most accurate results.
Healthy cholesterol is below 200 mg/dL. You will be considered at-risk if your total cholesterol is 200 to 239 mg/dL. High cholesterol is anywhere above 240 mg/dL.
Before familial hypercholesterolemia diagnosis is declared, the doctor will take a close look at family history.
Familial hypercholesterolemia: Treatment and prevention tips
Treating high cholesterol can be difficult and can include both lifestyle changes as well as medications. Sometimes people find that when they manage other conditions well, such as diabetes, it helps bring their cholesterol down to a more acceptable level. Healthy foods such as green vegetables, lentils, beans, oatmeal, low-fat dairy, and low-fat meats are known to be helpful. Regular exercise works wonders as well.
When it comes to familial hypercholesterolemia, there is no cure. Treatment focuses on reducing the person’s risk of heart disease and heart attack.
The following are approaches to dealing with familial hypercholesterolemia:
- Diet – reducing saturated fats and increasing fiber.
- Plant sterols and stanols – substances like cholesterol that aren’t absorbed by cells. They are known to reduce blood cholesterol. Corn and nuts are sources.
- Exercise – it can reduce blood cholesterol but should be approved by a doctor.
- Weight loss – a healthy weight can reduce risk complications such as heart attack and stroke.
- Avoid smoking – cigarette smoke allows cholesterol to stick to artery walls.
- Medications – cholesterol-lowering drugs are almost always prescribed for those who have familial hypercholesterolemia.
Familial hypercholesterolemia life expectancy is much shorter than the life expectancy of those who do not have the mutated gene. When you hear tragic stories about young lives lost to heart attack, it is often due to this disease. Cardiologists say that although it is the most commonly inherited metabolic disorder, it often goes undiagnosed. Knowing your family history and talking to your doctor about it is so important.
Although the treatment of familial hypercholesterolemia is similar to other causes of high cholesterol, missing the diagnosis and starting treatment too late can put a person at a high risk for a cardiac event or death.