About Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is an inherited disorder that causes high levels of cholesterol in the blood. It is caused by a genetic mutation that affects the body's ability to remove low-density lipoprotein (LDL) cholesterol from the blood. People with FH have an increased risk of developing heart disease, stroke, and other cardiovascular diseases. Treatment for FH typically includes lifestyle changes, such as eating a healthy diet and exercising regularly, as well as medications to lower cholesterol levels.

What are the symptoms of Familial Hypercholesterolemia?

The most common symptoms of Familial Hypercholesterolemia (FH) include:

-High levels of LDL (“bad”) cholesterol in the blood
-Early onset of heart disease, including heart attack and stroke
-Xanthomas (cholesterol deposits under the skin)
-Arcus corneae (white or gray ring around the cornea of the eye)
-Tendon xanthomas (cholesterol deposits in the tendons)
-High levels of triglycerides in the blood
-Family history of FH or early onset of heart disease

What are the causes of Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is an inherited disorder caused by a genetic mutation that affects the body's ability to process cholesterol. The mutation affects the LDL receptor, which is responsible for removing LDL cholesterol from the bloodstream. As a result, LDL cholesterol levels remain high, leading to an increased risk of heart disease. Other causes of FH include mutations in the APOB gene, which is responsible for producing the protein that binds to LDL cholesterol, and mutations in the PCSK9 gene, which regulates the LDL receptor.

What are the treatments for Familial Hypercholesterolemia?

1. Diet and lifestyle changes: Eating a healthy diet low in saturated fat and cholesterol, exercising regularly, and avoiding smoking can help reduce cholesterol levels.

2. Medications: Statins, bile acid sequestrants, cholesterol absorption inhibitors, and PCSK9 inhibitors are all medications that can be used to lower cholesterol levels in people with familial hypercholesterolemia.

3. Surgery: In some cases, surgery may be recommended to remove the blockage in the arteries caused by high cholesterol levels.

4. Apheresis: This is a procedure in which the blood is removed from the body, filtered to remove cholesterol, and then returned to the body.

What are the risk factors for Familial Hypercholesterolemia?

1. Family history of high cholesterol or heart disease
2. Age (more common in adults)
3. Gender (more common in males)
4. Obesity
5. Diabetes
6. Smoking
7. High blood pressure
8. Sedentary lifestyle
9. Poor diet (high in saturated fats and cholesterol)
10. Alcohol consumption

Is there a cure/medications for Familial Hypercholesterolemia?

Yes, there are medications and lifestyle changes that can help manage Familial Hypercholesterolemia. Medications such as statins, bile acid sequestrants, and PCSK9 inhibitors can help lower cholesterol levels. Lifestyle changes such as eating a healthy diet, exercising regularly, and quitting smoking can also help manage the condition.