Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor.

Familial hypercholesterolemia is inherited in an autosomal dominant manner. This means that to have this condition, it is sufficient that the altered (mutated) gene is present on only one of the person’s two number 19 chromosomes.

People with FH have fewer receptors on their cell membranes and therefore have elevated cholesterol in their blood, because the cholesterol cannot get into the cell to be carried to the liver. Thus, fewer receptors lead to elevated cholesterol which causes plaque formation and coronary artery disease.

Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth.

Familial hypercholesterolemia FAQs A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

Symptoms

• Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles and around the cornea of the eye.
• Cholesterol deposits in the eyelids (xanthelasmas)
• Chest pain (angina) or other signs of coronary artery disease may be present at a young age.
• Cramping of one or both calves when walking.

Diagnosing Homozygous Familial Hypercholesterolemia HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.

FH is a serious disorder. If left untreated, FH leads to premature heart disease. Yet for most people with FH, until they experience a heart attack, there are few physical signs or symptoms.

The most common treatment for FH is statin drug therapy. Statin drugs work by blocking an enzyme that produces cholesterol in the liver and increases your body’s ability to remove cholesterol from the blood. They can lower your LDL cholesterol levels by 50 percent or more.

The takeaway. 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.

Lipid lowering drugs may be considered before the age of 10 when there is a family history of CHD in early adulthood. Lifestyle modification. Treatment with high-intensity statin to reduce LDL-C by 50 % should be first line medical therapy.

Eating the right foods to lower cholesterol, exercising regularly, not smoking, controlling your weight and getting medical treatment can help you limit the impact of FH on your heart health.

Any healthy food (e.g. fish, fruits, vegetables, beans, low fat dairy products) that is substituted for a high saturated fat food will help lower your cholesterol.

Treating FH So does eating fish, whole grains, vegetables, and vegetable oils — all good sources of unsaturated fats. Other cholesterol-cutting foods include beans, oats, soy protein, nuts, and foods or supplements containing plant sterols or stanols.

One ocular sign of high cholesterol is a bluish ring that forms near the outside of the cornea, the otherwise clear, front part of the eye. These rings, called “arcus senilis,” appear most commonly with age as more cholesterol gets deposited into the cornea.

The most common symptoms include:

• angina, chest pain.
• nausea.
• extreme fatigue.
• shortness of breath.
• pain in the neck, jaw, upper abdomen, or back.
• numbness or coldness in your extremities.

You can’t tell if you have high cholesterol without having it checked. A simple blood test will reveal your cholesterol level. Men 35 years of age and older and women 45 years of age and older should have their cholesterol checked.

Ask about being tested for high cholesterol. You develop symptoms of heart disease, stroke, or atherosclerosis in other blood vessels, such as left-sided chest pain, pressure, or fullness; dizziness; unsteady gait; slurred speech; or pain in the lower legs.

A few changes in your diet can reduce cholesterol and improve your heart health:

1. Reduce saturated fats. Saturated fats, found primarily in red meat and full-fat dairy products, raise your total cholesterol.
2. Eliminate trans fats.
3. Eat foods rich in omega-3 fatty acids.
4. Increase soluble fiber.
5. Add whey protein.

Current national guidelines call for getting a fasting cholesterol test every five years beginning at age 20. That’s more than three decades away from prime heart-attack age—after age 55 for men and 65 for women.

What are normal levels of cholesterol?

You have borderline high cholesterol if your total cholesterol is between 200 and 239 milligrams per deciliter (mg/dL). Your doctor will also consider other things, like how much of your total cholesterol is LDL (“bad”) cholesterol and how much of it is HDL (“good”) cholesterol.

In the UK, the average total cholesterol level is 5.7mmol/l. High cholesterol levels are considered: too high: between 5 and 6.4mmol/l. very high: between 6.5 and 7.8mmol/l.

How do I know if I have familial hypercholesterolemia? One of the main signs of FH is LDL cholesterol levels over 190 mg/dL in adults (and over 160 mg/dL in children). In addition, most people with FH have a family health history of early heart disease or heart attacks.

FH is caused by a mutation in one of three genes: the low-density lipoprotein cholesterol receptor (LDLR), Apolipoprotein B gene (APOB), or a gain-of-function mutation in the gene for proprotein convertase subtilisin/kexin type-9 (PCSK9).

Familial hypercholesterolemia is caused by mutations in the LDLR gene which is located on chromosome 19. The defect makes the body unable to remove LDL cholesterol from the bloodstream.

Having FH greatly increases the risk of hardening of the arteries (atherosclerosis), which can lead to heart attacks, strokes and other vascular conditions. Untreated individuals with FH have a 20-fold increased risk for coronary artery disease (CAD).

If left untreated, FH can be a life-threatening disorder. At Yale Medicine, our physicians work with patients diagnosed with FH closely to ensure they have the most personalized medication and treatment program possible. “We have experts that can diagnose the condition and provide best therapies.

Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease.

The most recent estimate puts the number of FH patients in the US at 1 to 2 million. So that is certainly not rare! The number of extraordinarily severe cases is probably between 2 and 3 thousand, qualifying for the definition of a rare disease – being fewer than 200,000 in the US.