Familial Combined Hyperlipidemia and Other Inherited Lipid Disorders
A disorder called FCHL raises the levels of certain fats in your blood. It raises your cholesterol and triglyceride levels. Too much of these in your blood can increase your risk of cardiovascular disease.
FCHL is one of several types of genetic lipid disorders, but it is also the most common. According to a 2019 review, it affects about
Cholesterol-lowering medications, such as vastatin and other cholesterol-lowering drugs, can be used to treat many types of cholesterol disorders.
Hyperlipidemia vs. hypercholesterolemia
The term familial hypercholesterolemia is sometimes used interchangeably with familial hyperlipidemia. While the two are related, they don’t mean the same thing.
Hyperlipidemia can be defined as high levels of several types of cholesterol.
Hypercholesterolemia refers to high levels of LDL cholesterol or total cholesterol. But it does not include triglycerides. Hypercholesterolemia is a type of hyperlipidemia.
One of the ways hyperlipidemia can develop is by smoking.
- Acquired hyperlipidemia refers to high lipid levels due to an underlying condition such as obesity, diabetes, or a sedentary lifestyle.
- Familial hyperlipidemia is caused by a mutation on
chromosome 19. One or both parents may pass down this genetic mutation.
There are several inherited lipid disorders. Each one affects your lipid levels in a different way. The main types of familial lipid disorders include:
- FCHL: This usually means your LDL cholesterol level is above 190 mg/dL. You also have high total cholesterol and triglycerides, but low HDL (“good”) cholesterol.
- Familial defective apolipoprotein B100: Apolipoprotein B100 is a type of protein and is a main building block of LDL cholesterol. This condition usually leads to high LDL levels (160 mg/dL to 330 mg/dL).
- Familial dysbetalipoproteinemia: This is due to a defect in the gene for apolipoprotein E, a protein that “packages” lipids so they can move through your bloodstream. The condition leads to high levels of total cholesterol and triglycerides.
- Familial hypertriglyceridemia: This causes excessive production of very low-density lipoproteins (VLDL). This, in turn, causes high levels of triglycerides (200 to 500 mg/dL).
- Heterozygous familial hypercholesterolemia (HeFH): HeFH occurs when one parent passes down the mutated gene that causes familial hypercholesterolemia. It leads to high LDL levels (190 to 350 mg/dL). If both parents pass down the mutated gene, the condition is called homozygous familial hypercholesterolemia (HoFH).
The risk of having a family member with a lipid disorder is not related to the age of the person.
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The degree to which a person has hypercholesterolemia can vary from person to person.
You can have a family history of hyperlipidemia and not experience any symptoms. You may experience this as the condition progresses.
- There is chest pain.
- There is confusion.
- “There are foot sores that don’t heal.”
- Leg pain in the calves.
“Because you don’t have any symptoms, the only way to know for sure is with a blood test. In adulthood, acquired hyperlipidemia will usually show up in routine blood work. High levels of cholesterol can be found in teenagers.”
If your blood work shows high levels of cholesterol, your doctor may want to look into the possibility of hypercholesterolemia. They may run more tests to confirm the initial results.
Your doctor will look at your family history. If you have a family history of cardiovascular disease, it is important to give your doctor that information. It may help them to make a proper diagnosis.
Your doctor may also recommend genetic testing. The
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Can I prevent hyperlipidemia if I have a family history of it?
“You can’t prevent it because it’s an inherited condition. You can work with your doctor to lower your risk of cardiovascular problems. Taking cholesterol-lowering medications is included.”
Even with hyperlipidemia, you may be able to enjoy a long and healthy life. The treatment will need to continue because the condition is chronic.
Cardiovascular problems are caused by inherited lipid disorders. The damage from elevated levels of cholesterol starts earlier in life.
The main concern with FCHL is the increased risk of heart disease, including a heart attack or stroke at an early age.
High levels of LDL cholesterol in the blood make it more likely you will develop a condition called atherosclerosis. That’s when your arteries narrow due to a buildup of plaques composed of cholesterol and other substances. Atherosclerosis is a major risk factor for heart attack and other cardiovascular problems.
Higher rates of obesity and glucose intolerance — both risk factors for type 2 diabetes — are also more common among people with familial hyperlipidemia.
Treating hyperlipidemia usually requires a statin, a daily drug to drive down your LDL level. Statins may also lower your triglycerides.
Other cholesterol-lowering drugs include ezetimibe (Zetia), which you might take in addition to a statin. Your doctor may also prescribe PCSK9 is a dog. inhibitors, which are expensive medications doctors inject under your skin every month or so.
Your doctor may suggest you to exercise and follow a plant-based diet low in trans and saturated fats.
It is a major risk factor for heart disease, but it is possible to treat it. It requires aggressive blood cholesterol control with medications and lifestyle changes because it is a lifelong condition.
People with familial lipid disorders are more likely to have heart disease at a younger age than the general population. Studies suggest that early testing and diagnosis can improve the life expectancy for people with FCHL.
A set of disorders that cause high blood cholesterol levels is called a famillel hyperlipidemia. The most common of these conditions is a family history of hypercholesterolemia.
If you are diagnosed with a disorder that causes high levels of cholesterol, you will have to keep a close watch on your levels. It is helpful to track your HDL levels, as higher levels can help reduce the risks posed by high LDL. You will need to be careful about taking your medication and following a heart-healthy lifestyle.
It is important to have early diagnosis and treatment to improve your outlook. These conditions are rare, so you may need to talk with a doctor who specializes in treating them. Talking with a genetics counselor may help you understand how your condition could affect you and your family.