What is Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder that causes a very high level of LDL (low-density lipoprotein) cholesterol. Cholesterol is a waxy, fat-like substance that your body needs to build cells.
Your body makes all the cholesterol it needs in the liver and removes extra (excess) cholesterol from the blood as needed. Excess cholesterol comes from food that you eat. In people who have FH, the body is not able to remove LDL cholesterol from the blood as it should.
A high level of LDL cholesterol puts you at higher risk for narrowing and hardening of your arteries (atherosclerosis) at an early age. This raises your risk for heart disease and stroke.
What are the causes?
FH is passed from parent to child (inherited). FH is caused by an inherited gene defect (genetic mutation) that makes it hard for the liver to remove LDL cholesterol from the blood. The gene may be inherited from one parent or both parents.
What increases the risk?
You may be at higher risk for FH if:
- You have a family history of the condition. If both parents carry the genetic mutation, their children are at higher risk for a more severe form of FH, with symptoms that start at an earlier age.
What are the signs or symptoms?
You may have a high level of LDL cholesterol before you develop symptoms. Symptoms of FH may include:
- Cholesterol nodules (xanthomas) on the cords of tissue that connect muscles to bones (tendons). Xanthomas often form on the long tendon at the back of the ankle (Achilles tendon) or on the tendons on the back of the hands.
- Cholesterol deposits (xanthelasmas) under the skin of the eyelids.
- A gray or blue ring around the white part of the eye (corneal arcus).
Complications of FH can occur due to atherosclerosis. Atherosclerosis may cause damage to an area of the body that is not getting enough blood. Complications of FH may include:
- Chest pain (angina) and shortness of breath due to narrowed or blocked arteries in the heart (coronary artery disease).
- Pain and cramping in the back of the lower legs (calves) when walking (claudication).
- Interruption
in blood flow to the brain (stroke). This may cause:
- Loss of balance.
- Vision loss.
- Sudden weakness or numbness on one side of the body.
How is this diagnosed?
This condition may be diagnosed based on:
- Your symptoms.
- Your medical history, including any family history of FH or early coronary heart disease.
- A physical exam.
- A blood test to check for the genetic mutation that causes FH. Your family members may also be tested.
How is this treated?
There is no cure for FH, but treatment can lower LDL cholesterol levels and lower your risk for heart attack or stroke. Treatment should be started as soon as you are diagnosed. Treatment may include:
- A type of medicine that lowers your cholesterol (statin). If statins do not help, your health care provider may try other kinds of cholesterol-lowering medicines. The exact combination of medicines depends on the severity of your symptoms.
- A procedure to filter LDL from your blood (apheresis). You may need this treatment if you have a severe form of FH.
- Making lifestyle changes that are healthy for your heart, such as lowering the amount of fat and cholesterol in your diet.
Follow these instructions at home:
Lifestyle
- Lose weight, if directed by your health care provider.
- Follow
instructions from your health care provider about eating a healthy diet.
Your health care provider may recommend:
- Working with a diet and nutrition specialist (dietitian), who can help you make a healthy eating plan and help you maintain a healthy weight.
- Eating less fat and cholesterol. Avoid fatty meats, fried foods, and whole-fat dairy.
- Eating more vegetables, fruits, and whole grains.
- Limiting your intake of alcohol.
- Be physically active. Ask your health care provider what type of exercise is best for you.
- Do notuse any products that contain nicotine or tobacco, such as cigarettes and e-cigarettes. If you need help quitting, ask your health care provider.
Work with your health care provider to manage any other conditions you have, such as high blood pressure (hypertension) or diabetes. These conditions affect your heart.
General instructions
- Take over-the-counter and prescription medicines only as told by your health care provider.
- Keep all follow-up visits as told by your health care provider. This is important.
Contact a health care provider if:
- You have pain or cramps in your calf when you walk.
Get help right away if:
- You have sudden, unexplained discomfort in your chest, arms, back, neck, jaw, or upper body.
- You have trouble breathing.
- You have a sudden, severe headache with no known cause.
- You
have any symptoms of a stroke. “BE FAST”is an easy
way to remember the main warning signs of a stroke:
- B – Balance.Signs are dizziness, sudden trouble walking, or loss of balance.
- E – Eyes.Signs are trouble seeing or a sudden change in vision.
- F – Face.Signs are sudden weakness or numbness of the face, or the face or eyelid drooping on one side.
- A – Arms.Signs are weakness or numbness in an arm. This happens suddenly and usually on one side of the body.
- S – Speech.Signs are sudden trouble speaking, slurred speech, or trouble understanding what people say.
- T – Time.Time to call emergency services. Write down what time symptoms started.
These symptoms may represent a serious problem that is an emergency. Do not wait to see if the symptoms will go away. Get medical help right away. Call your local emergency services (911 in the U.S.). Do not drive yourself to the hospital.
Summary
- Familial hypercholesterolemia (FH) is a genetic disorder that causes a very high level of LDL (low-density lipoprotein) cholesterol.
- FH increases your risk for coronary heart disease and stroke at an early age.
- Treatment for FH should be started as soon as you are diagnosed with the condition. Treatment is aimed at lowering your risk for complications.
- Follow instructions from your health care provider about eating a healthy diet. Your health care provider may recommend eating less fat and cholesterol.
