Familial Hypercholesterolemia
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1 Understanding (FH) Familial Hypercholesterolemia For more information, visit
2 Understanding Familial Hypercholesterolemia (FH) Your doctor may have told you that too much of the bad type of cholesterol is not good for your health. Millions of Americans have abnormal levels of LDLcholesterol, the bad cholesterol. Their cholesterol levels come from eating a diet too high in fat, getting older, not getting enough physical activity, and being overweight or obese. But some people are born with extremely high levels of LDL-cholesterol because of a genetic defect they inherited from one or both parents. This condition is called familial hypercholesterolemia (FH). When there is a harmful change (a mutation) to one of several genes (the basic units of heredity) in the body, FH can be the result. Typically, a key gene that helps find and remove cholesterol from the body is either missing or doesn t work the way it should. Because the body has trouble getting rid of cholesterol, LDL-cholesterol levels build up quickly and, without treatment, remain elevated in the bloodstream. This dangerous accumulation of cholesterol can lead to a condition called atherosclerosis, where cholesterol and other substances build up in the walls of the arteries, potentially choking off the blood supply. This puts people with FH at very high risk for a heart attack or stroke. People with FH can appear healthy on the outside, but inside their arteries are extremely unhealthy. About 1 in every 250 people have FH worldwide, yet 90% of people with the condition don t know they have it. People with FH have a lifetime risk for a major cardiovascular event (such as a heart attack or stroke) that is 5 to 20 times higher than it is for other people, and their risk is high even when they re young. That s why getting a diagnosis and getting it treated as soon as possible are so important. It is an INHERITED CONDITION. People with FAMILIAL HYPERCHOLESTEROLEMIA are BORN WITH DANGEROUSLY HIGH LEVELS OF LDL, or the bad cholesterol. EARLY CARDIAC EVENTS HIGHER RISK OF HEART ATTACK & STROKE EARLY DEATH FH RUNS IN FAMILIES If a parent has FH......there s a 50% CHANCE that a child will have it. Untreated men with FH have a 50% CHANCE OF HAVING A CARDIAC EVENT by age 50 Untreated women have a 30% CHANCE BY AGE 60 Consider earlier screening for children whose parents have FH.
3 KNOW THE SIGNS VERY HIGH LDL CHOLESTEROL LEVEL at a young age Risk factors FH is a genetic disease, which means it is inherited from one or both parents. If one parent has FH, then there is a 50% chance that their child will, too. If both parents have it, then all their children will have it, too. >160 ml/dl in kids >190 ml/dl in adults Being of a certain ethnic background is also a risk factor for FH. French Canadians, Ashkenazi Jews, South Africans and Christian Lebanese people are all at higher risk. LDL cholesterol Signs and symptoms Sadly, a heart attack or stroke may be the first sign that a person has FH. Because so few know they have it, some people with FH die from a cardiovascular event in their younger years. NODULES OR RAISED BUMPS on the skin, tendons, eyelids WHITE RING AROUND THE CORNEA in the eye There are other signs and symptoms that a person may have FH. They include: Xanthomas (bumps on your tendons), xanthelasmas (bumps around your eyes), or bumps on the tops of your hands Corneal arcus (a white ring around the upper and lower portions of the cornea of the eye), especially before age 45 Initial treatment with medications to lower cholesterol FAILS TO REACH GOAL LDL LEVEL
4 Coronary artery disease (cholesterol buildup in the arteries of the heart) Angina (chest pain or discomfort) can be a sign of narrowing of the arteries of the heart Peripheral vascular disease (cholesterol buildup in the arteries of the legs) Carotid artery disease (the narrowing of the blood vessels in the neck that carry blood from the heart to the brain) Diagnosing FH The diagnosis of FH is usually based on a review of family history, a physical exam and a lipid panel (blood test). During a visit to your health care provider, he or she will review your family s medical history. This will include whether either or both parents are known to have FH or very high LDL-cholesterol, or whether anyone in the family died from heart disease at an early age. Your provider also will conduct a physical exam and order a blood test that measures cholesterol in your blood, called a fasting lipid panel. Your provider will instruct you not to eat or drink after a certain amount of time before the test, typically eight hours. Because other conditions can cause LDL-cholesterol levels to rise, your provider likely will want to rule out kidney or thyroid disease, or eating disorders. LDL-cholesterol is considered borderline high when its level is between 130 and 159 ml/dl. It s considered high when it s over 160 ml/dl. People with FH, however, tend to have much higher numbers. Level Best Borderline high High Range < 130 ml/dl ml/dl > 160 ml/dl
5 Sometimes, a genetic test is done. This is not often recommended, however, because it is expensive and doesn t pick up all the mutations that might cause FH. A more reliable way to determine if FH is present is to start cholesterol screening in children. When children have a parent with suspected or confirmed FH, consider screening for the condition before a child is 9 years old. If a family member is diagnosed with FH, it is important for other family members to be screened. The consequences of having FH are preventable with early, aggressive treatment. Treating FH It is vitally important to treat FH as soon as it s detected, and medication is nearly always part of the therapy. The most commonly prescribed medications for FH include: Statins: Statins block an enzyme the body needs to produce cholesterol. Doctors usually prescribe the highest-potency statins, at the highest doses, for people with FH. Bile acid sequestrants: These medications help remove cholesterol from the body. Cholesterol absorption inhibitors: These medications block cholesterol from being absorbed. PCSK9 inhibitors: This newer class of medication helps protect the receptors that clear cholesterol from the blood and allow more cholesterol to be removed through this mechanism. In the rare instance where both parents have FH, their child may be treated with mipomersen or lomitapide. How to TREAT it COMBINATION THERAPY is often needed: MEDICATIONS (statins, bile acid sequestrants, cholesterol absorption inhibitors, PCSK9 inhibitors) DIET, EXERCISE and LIFESTYLE CHANGES Therapy to remove LDL from the bloodstream Ongoing monitoring
6 Sometimes people can t tolerate these medications well, or the medications are not as effective as they need to be. In this case, a procedure called lipoprotein apheresis may be used. This nonsurgical therapy filters LDL cholesterol from the bloodstream. Regardless of which medications your health care provider prescribes, it s very important that you take your medications exactly as your doctor instructs you to. That means taking your medications safely: Continue taking your medications unless your doctor tells you to stop. Set a medication schedule, and stick to it. Some people find it helpful to take their medications at the same time every day. Read medication labels carefully. The labels usually contain vital information, such as whether to take the medication with food or drink, whether to avoid any types of food or drink while on the medication (for example, people who take statins may need to avoid or limit grapefruit and grapefruit juice, which can interfere with how well certain statins work), what the proper dosage is, and whether to avoid any activities while taking the medication. Sort your medications into a pillbox. If you take medications as instructed at different times of the day, a pillbox with time-of-day compartments can be helpful. Most drugstores carry pillboxes. Set up a pill calendar or medication reminder. Many people find using an alarm on their watch or smartphone to be helpful, too. Ask your family members or friends if they can help you remember. Regardless of what medications or procedures are prescribed, ongoing careful monitoring is necessary for people with FH.
7 Lifestyle While a heart-healthy diet, getting enough exercise, losing weight and not smoking are important to everyone s health, they are especially critical for people with FH. People with FH should eat a diet that is low in saturated fats, and eliminating trans fats is a must. Instead, people with FH should eat plenty of fresh fruits and vegetables, and get plenty of fiber (especially soluble fiber) from their meals. In general, people with FH should: Limit the amount of saturated fats (fatty meats, full-fat dairy products) and carbohydrates they eat (and avoid trans fats completely, such as those found in many baked goods, fried foods and margarines). Avoid full-fat dairy products and processed foods, especially those with partially or fully hydrogenated oils. Hydrogenated oils are those which become solid at room temperature and are present in shortening, margarine, fried foods, baked goods and packaged snacks. Choose healthier (unsaturated) fats, such as olive oil, avocados and almonds, over butter or margarine. Regular physical activity can help raise the body s level of good cholesterol, called HDL-cholesterol. HDL helps remove LDL from the bloodstream. For most people, getting 30 minutes of moderateintensity activity at least five times a week is a good goal. These activities can include walking, jogging, cycling or swimming or even gardening and heavy housework. And there s good news: We now know that you don t have to get your half-hour in all at once. Breaking your workout into 10-minute segments is just as effective for your health as doing it all in one 30-minute block. There are many little ways to increase your activity level during your day, as well. Try parking farther away from your destination, taking the stairs instead of the elevator or escalator, dancing around the house, walking the dog, and getting off the bus or subway a stop or two before you arrive at your destination and walking the difference. If a person with FH is overweight or obese, a weight-loss plan likely will be part of the therapy as well. Losing just 5 to 10 pounds can lower your cholesterol levels. There s one reliable way to do this: Use more calories than you consume. Healthy weight loss typically means shedding no more than 2 pounds per week. Fad diets generally don t
8 work for long, as people who go on them often gain the weight back once the novelty of the diet is gone. Your health care team can guide you in choosing a healthy plan for losing weight. Lifestyle Changes Exercise regularly Adopt a heart-healthy eating plan Manage stress Talking with your health care team Ongoing, regular contact with the health care team is very important for people with FH. If you notice any changes in symptoms, report them to your health care team at once. This is also the right time to get answers to any questions you have about your condition. Good questions to ask include: What medications am I taking, and how does each work to lower my cholesterol levels? What should I do if I experience side effects from the medications I m taking? How can I manage all my health conditions together most effectively? Will I need to take these medications for the rest of my life? Is LDL apheresis a good option for me? If so, how does it work? Is it safe? How often should my cholesterol be checked? What should my cholesterol levels be with treatment? Don t smoke Get to a healthy body weight Do I need other tests? Would it be a good idea for me to talk with a genetic counselor? If so, can you recommend one? When should I talk with my kids about FH, and when should I get them tested? Smoking is terrible for anyone s health. Because people with FH are at much higher risk for a heart attack or stroke, they must avoid cigarette smoke, which raises the risks even higher. If you don t smoke, don t start. If you do, talk to your health care team about ways to help you quit, and call the Quit Line (1-800-QUIT-NOW) for support. Is FH treated differently in children? If so, how is it different? I want to get pregnant. Do FH treatments need to be adjusted or stopped when I do? FH is a serious condition, but the formation of plaque in the arteries that leads to disease can be prevented with early diagnosis and effective treatment. Work with your health care team to stay on top of your condition and reduce your risk of a life-threatening heart attack or stroke.
9 Resources Learn more about FH at FH Foundation: thefhfoundation.org National Lipid Association: lipid.org Foundation of the National Lipid Association: lipidfoundation.org National Heart, Lung, and Blood Institute: nhlbi.nih.gov For more information, visit CardioSmart is sponsored in part by Amgen Inc. Information provided for educational purposes only. Please consult your health care provider about your specific health needs. 2017, American College of Cardiology
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