Familial Hypercholesterolemia Disease Information

Familial Hypercholesterolemia (FH) is an inherited disorder that leads to abnormally elevated cholesterol levels in the blood. It is caused by a genetic mutation that interferes with the body’s capacity to get rid of cholesterol from the blood. People with FH have a greater risk of developing heart disease, stroke, and other serious health issues. The most common sign of FH is high cholesterol levels in the blood. People with FH may have cholesterol levels that are twice as high as normal or even higher. Other symptoms may include high blood pressure, chest pain, and an increased risk of heart attack or stroke. The cause of FH is a genetic mutation that affects the body’s ability to remove cholesterol from the blood. The mutation is passed on from parents to their children. If one parent has the mutation, there is a 50% chance that their children will also have it. Treatment for FH includes lifestyle modifications such as eating a healthy diet and exercising regularly. Medications such as statins may also be prescribed to help lower cholesterol levels. In some cases, surgery may be recommended to remove the excess cholesterol from the body. FH is a serious condition that can have serious consequences if left untreated. It is important to be aware of the symptoms and seek medical attention if you or a loved one are exhibiting signs of FH. Early diagnosis and treatment can help stop serious health problems in the future.

1. Autosomal Dominant Hypercholesterolemia (ADH)
2. Autosomal Recessive Hypercholesterolemia (ARH)
3. Familial Combined Hyperlipidemia (FCH)
4. Familial Defective Apolipoprotein B-100 (FDB)
5. Familial Hypertriglyceridemia (FHTG)
6. Familial Hypercholesterolemia (FH)
7. Familial Lipoprotein Lipase Deficiency (LPLD)
8. Familial Dysbetalipoproteinemia (FD)
9. Familial Hyperalphalipoproteinemia (HA)

1. High levels of LDL ("bad") cholesterol
2. High levels of total cholesterol
3. Early onset of heart disease
4. Tendon xanthomas (cholesterol deposits in tendons)
5. Arcus corneae (white or gray ring around the cornea of the eye)
6. Atherosclerosis (hardening of the arteries)
7. Stroke
8. Angina (chest pain)
9. Heart attack
10. Abnormal electrocardiogram (ECG) readings

1. Family Hypercholesterolemia (FH) is a hereditary disorder that causes high cholesterol levels in the blood. Diagnosis of FH is based on a combination of medical, laboratory, and genetic testing. Clinical Diagnosis:
2. Ancestral history of high cholesterol levels or early coronary artery disease
3. High total cholesterol levels (more than 200 mg/dL)
4. High levels of low-density lipoprotein (LDL) cholesterol (more than 130 mg/dL)
5. Tendon xanthomas (cholesterol deposits in the skin) Laboratory Diagnosis:
6. Lipid panel (measuring levels of total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides)
7. Apolipoprotein B (ApoB) test
8. Lipoprotein (a) test Genetic Diagnosis:
9. DNA testing to detect mutations in the LDL receptor gene
10. DNA testing to detect mutations in the apolipoprotein B gene
11. DNA testing to detect mutations in the PCSK9 gene

Familial Hypercholesterolemia (FH) is a hereditary disorder that causes elevated cholesterol levels in the blood. It is caused by a genetic mutation which impairs the body's capability to break down cholesterol, resulting in an excess of cholesterol in the bloodstream. This can raise the chances of heart disease, stroke, and other cardiovascular issues.

Familial hypercholesterolemia (FH) is a hereditary disorder that leads to elevated cholesterol levels in the bloodstream. Treatment for FH usually involves making lifestyle modifications, such as exercising frequently, consuming a nutritious diet, and stopping smoking. Medicines may also be prescribed to aid in reducing cholesterol levels, such as statins, bile acid sequestrants, or cholesterol absorption inhibitors. In certain scenarios, a low-density lipoprotein apheresis procedure may be suggested to take out cholesterol from the blood.

1. Familial Hypercholesterolemia (FH) is a hereditary disorder that causes high cholesterol in the blood. To prevent heart disease, stroke, and other cardiovascular issues, it is essential to take steps to manage FH. Here are some tips for living with FH and self-care:
2. Eat a nutritious diet: Eating a diet low in saturated fat and cholesterol can help reduce cholesterol levels and the risk of heart disease and stroke. Pick foods that are high in fiber, such as fruits, vegetables, and whole grains.
3. Exercise regularly: Regular exercise can help lower cholesterol levels and the risk of heart disease and stroke. Aim for at least 30 minutes of physical activity, such as walking, jogging, or swimming, most days of the week.
4. Take cholesterol-lowering medications: If lifestyle changes alone are not sufficient to lower cholesterol levels, your doctor may prescribe cholesterol-lowering medications. These medications can help lower cholesterol levels and reduce the risk of heart disease and stroke.
5. Quit smoking: Smoking increases the risk of heart disease and stroke. Quitting can help lower cholesterol levels and reduce the risk of heart disease and stroke.
6. Manage stress: Stress can raise cholesterol levels and the risk of heart disease and stroke. Find ways to manage stress, such as yoga, meditation, or talking to a counselor.
7. Monitor your cholesterol levels: Regularly monitoring your cholesterol levels can help you stay on top of your condition and take steps to keep your levels in a healthy range.