FH is a hereditary disorder that results in extremely high LDL ("bad") cholesterol levels from a young age. Cholesterol levels will continue to rise if left untreated. This dramatically increases the chance of developing heart disease, having a heart attack, or having a stroke at a young age. People suffering from cardiovascular illness (CVD). Such as FH patients or those with another cause of high cholesterol levels. Are likely to have additional risk factors for heart disease also present such as high blood pressure, diabetes, obesity, etc.
The most common form of FH is caused by a mutation in one of two genes: LDLR and APOB. These are both responsible for producing proteins that break down lipids (fats) in your body. The mutations prevent these proteins from doing their job, so excess lipid builds up in your blood. Your body then reacts to this overload of energy by making more of the protein products mentioned above. As well as increasing the amount of LDL cholesterol, they also increase the production of VLDLs (triglycerides) which lead to higher levels of HDL (good) cholesterol.
If you have FH, your doctor will perform a genetic test to identify which gene you are carrying. They will also check your family history to see if any members of your family have FH. Based on this information, your doctor may suggest changes to your lifestyle and diet to reduce the risk of cardiovascular disease.
Familial hypercholesterolaemia (FH) is a genetic illness that can result in dangerously high cholesterol levels. It is genetically handed down via families. FH, if left untreated, can develop to heart disease at an early age. People with FH are likely to find that they build up fatty deposits in their blood vessels and may have strokes or heart attacks. There is no cure for FH, but treatment can reduce the risk of serious heart problems. Living with FH means taking medications and following a low-fat, high-carb diet to keep cholesterol levels under control.
Hypercholesterolemia is the term used when there is too much cholesterol in the blood. High cholesterol levels increase your risk of having a heart attack or stroke. The most common type of hypercholesterolemia is known as primary hypercholesterolemia. Here, there is no apparent cause for the high cholesterol levels. Secondary hypercholesterolemia occurs when there is a cause other than poor nutrition for the elevated levels. For example, tumors produce hormones that can raise cholesterol levels. Diabetes, obesity, alcohol abuse, and hypothyroidism also can contribute to high cholesterol levels.
It is possible for hypercholesterolemia to be inherited. This form of the disease is called familial hypercholesterolemia (FH). People with FH may not know they have it because there are no symptoms until complications arise.
This disorder, known as familial hypercholesterolemia, or FH, can cause hazardous LDL cholesterol levels to rise to 350 milligrams per deciliter (mg/dL)—more than three times higher than the recommended threshold of less than 100 mg/dL. People with FH are prone to build up fat deposits in their blood vessels and may develop heart disease at an early age.
Symptoms include tendon xanthomas (yellow patches of tissue that form on the ends of bones due to high levels of cholesterol), a family history of heart disease, and premature coronary artery disease. About one in 500 people have this condition. About 10% of those with FH will also have diabetes.
The primary treatment for FH is dietary change. Patients are advised to eat foods that are low in saturated fats and cholesterol, such as eggs, milk, cheese, ice cream, meat, fish, poultry, nuts, and vegetables. They should also avoid snacks that contain large amounts of sugar or starch because these substances increase cholesterol levels temporarily. Finally, patients are encouraged to exercise regularly and keep their weight under control.
If your doctor suspects you might have FH, a blood test will be done to measure your total cholesterol, HDL cholesterol, and triglyceride levels. If you have FH and don't treat it, you'll need to start taking steps now to prevent further damage to your heart.
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