FH Glossary of Terms
ACE inhibitors: This class of medication is used to lower blood pressure and reduce strain on the heart. They also help slow down further weakening of the heart muscle.
Angina pectoris: Chest pain or pressure resulting from insufficient blood flow (and oxygen delivery) to the heart muscle – typically, the result of blockages within the coronary arteries. In some people angina is felt as arm, jaw or neck pain (pressure)
Angioplasty: See Coronary artery balloon angioplasty
Anticlotting medicines: Anticlotting medicines stop platelets from clumping together and forming unwanted blood clots. Examples of anticlotting medicines include aspirin and clopidogrel (Plavix).
Anticoagulants: Anticoagulants, or “blood thinners,” prevent blood clots from forming in arteries. These medicines also keep existing clots from getting larger.
Apolipoprotein B: Apo B is the apolipoprotein involved in LDL metabolism. It is essential for the removal of LDL via the LDL receptor, because it is the part of LDL that is recognized by the LDL receptor. It is useful in evaluating CHD risk and in monitoring treatment when CHD and/or high levels of apo B have been established.
Arcus (see Corneal arcus)
Arrhythmia: Irregular heartbeats that can signal the presence of disease in the heart, including lack of oxygen due to coronary artery disease.
Atherosclerosis: a disease in which plaque (composed of cholesterol, other lipids, fibrous material, and cellular debris) builds up inside the coronary (and other) arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body.
Beta blockers: This class of medications helps decrease the heart’s workload. These medicines also are used to relieve chest pain and discomfort and to help prevent repeat heart attacks. Beta blockers also are used to treat irregular heartbeats.
Bypass: See Coronary artery bypass grafting
Cardiac: Pertaining to the heart
Cardiac catheterization: See Coronary angiography
Cardiac risk factors: Aspects of one’s life which predispose to the development of cardiac disease. These include: elevated LDL cholesterol (bad cholesterol), depressed HDL cholesterol (good cholesterol), elevated triglycerides, smoking, diabetes, a family history of heart disease, obesity, a sedentary lifestyle, high blood pressure, an elevated lipoprotein (a) [Lp(a)], being a male over 45 or a postmenopausal female.
Carotid intima-media thickness (CIMT): Intima-media thickness (IMT) is a measurement of the thickness of artery walls, usually by external ultrasound to both detect the presence and to track the progression of atherosclerotic disease. Carotid intima-media thickness is strongly associated with atherosclerosis.
Cascade Screening: The process of measuring the cholesterol in all first degree relatives of an individual (parent, sibling, children) with known familial hypercholesterolemia (FH). Given that 50% of first degree relatives will also have FH, cascade screening is an important method of identifying people at risk for early heart disease.
Cholesterol: Cholesterol is a waxy, fat-like substance that’s found in all cells of the body. Cholesterol is composed of 27 carbon atoms in the form of four “rings” with a tail. It is found only in animal cells where it is used to make hormones, vitamin D, and substances that help digest foods (bile acids). The body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods we eat such as egg yolks, red meat, cheese, milk, and ice cream.
Corneal arcus: Deposit of cholesterol in the clear outer covering (cornea) of the eye that usually occurs in the shape of a half moon (arcus). Corneal arcus before the age of 55 usually indicates the presence of a blood lipid disorder. Corneal arcus in the elderly (arcus senilis) or in African Americans does not usually indicate a blood lipid problem.
Coronary angiography: A procedure in which dye is injected into the coronary arteries via a flexible catheter (a thin, hollow plastic tube) to determine if these arteries have significant blockages.
Coronary artery: An artery that supplies blood (carrying nutrients and oxygen) to the heart muscle. Coronary arteries arise from the aorta. The major arteries include the right coronary artery (RCA), the left main artery which quickly divides into the left anterior decending (LAD) artery and the circumflex artery.
Coronary artery balloon angioplasty: A procedure in which a thin catheter containing an inflatable balloon is used to open a blocked coronary artery.
Coronary artery bypass grafting: Open heart surgery in which a leg vein (saphenous vein) or a breast artery (mammary artery) is used to connect the aorta with a coronary artery just beyond a cholesterol blockage.
Coronary Heart Disease: (CHD) is a narrowing of the blood vessels that supply blood (containing nutrients and oxygen) to the heart (also called coronary artery disease – CAD). Coronary heart disease is caused by the buildup of plaque in the arteries of the heart and is the leading cause of death in the United States for men and women.
Familial hypercholesterolemia (FH): A genetic cholesterol disorder that prevents affected individuals from processing LDL cholesterol (the bad cholesterol) properly. Persons who have inherited a single gene for the disorder
(heterozygous FH or HeFH) will have an LDL-cholesterol level 2-3 times higher than normal. Individuals who have inherited 2 genes for the disorder
(homozygous FH or HoFH) will often have an LDL-cholesterol level that is 3-6 times normal. Left untreated FH leads to premature heart disease. Treatment includes diet, medications and sometimes LDL-Apheresis.
High-density lipoprotein (HDL-C): Often referred to as the called “good” cholesterol, high levels of this lipoprotein protect against the development of heart disease through a process called reverse cholesterol transport..
LDL-Apheresis: A dialysis-like procedure in which LDL-cholesterol is removed from the blood on a weekly or biweekly basis. This procedure is reserved for persons who continue to have very high LDL-cholesterol despite maximally tolerated medications.
Lipid profile: A blood test which reports total cholesterol, triglycerides, HDL cholesterol and LDL cholesterol.
Lipid Specialist: A physician or other health care professional with special training in the diagnosis and treatment of individuals with cholesterol (lipid) disorders.
Lipoprotein (a) [Lp(a)]: An LDL-like particle with an attached protein called apolipoprotein (a) found in the bloodstream. Elevated levels of this blood lipid increase a person’s risk of developing early heart disease. Persons with FH frequently have high levels of Lp(a).
Low-density lipoprotein cholesterol (LDL- C): Sometimes is called “bad” cholesterol. A high LDL-C level can lead to a buildup of cholesterol in the arteries and increase the risk of heart attack and stroke. (Arteries are blood vessels that carry oxygenated blood throughout the body.)
substances such as a fat, oil or wax that dissolve in alcohol but not in water. Lipids are an important part of living cells. Together with carbohydrates and proteins.Lipids are the main constituents of plant and animal cells. Cholesterol and triglycerides are lipids. Lipids are easily stored in the body. They serve as a source of fuel and are an important constituent of the structure of cells.
Myocardial infarction: (MI or Heart Attack) Heart attacks most often occur as a result of coronary heart disease (CHD), also called coronary artery disease (CAD). CHD is a condition in which plaque (composed of cholesterol other lipids and cellular debris) builds up inside the coronary arteries. When the coronary arteries are blocked, they are unable to supply oxygen-rich blood to the heart. This results in damage or death to the heart muscle cells (heart attack).
Particle size: Lipoproteins vary in size and contain variable amounts of cholesterol and triglycerides. Particles are often described as small and dense or large and fluffy.. When LDL particles are small they more easily get into the artery wall leading to a build up of cholesterol and risk of heart disease. People with high triglycerides often have an abundance of small dense LDL particles.
Risk factors for CHD: A risk factor for heart disease is something that increases your chance of getting it. You cannot change some risk factors for heart disease, but others are able to be changed. Examples of those risk factors that cannot be changed include: age, gender, genes and race. Factors that can be changed are Diabetes, High Blood Pressure, Smoking, Obesity and lack of Exercise.
Statins: A class of drugs also known as HMG CoA reductase inhibitors. These medications block a critical step in cholesterol synthesis. Not only do they decrease cellular cholesterol production, they increase cellular LDL receptors, allowing for increased removal of cholesterol from the blood stream. Depending on the statin and dose these agents can lower LDL cholesterol from 25-60%. Examples include: lovastatin (Mevacor®) pravastatin (Pravachol®), simvastatin (Zocor®), fluvastatin (Lescol®), artorvastatin (Lipitor®), rosuvastatin (Crestor®), and pitavastatin (Livalo®)
Stent: When blockages in the coronary arteries reach a critical point an angioplasty, which is procedure that opens blocked or narrowed coronary arteries may be performed. A thin, flexible tube with a balloon on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. The balloon is inflated to push the plaque against the artery wall, during this same procedure the doctor may put a mesh tube called a stent in the artery. The stent helps keep the artery open.
Trigycerides: One of the blood fats. A triglyceride consists of three molecules of fatty acid attached to a glycerol backbone through a chemical bond called an ester bond. Triglycerides may be produced in the liver or come from the food we eat. Blood triglyceride levels are influenced by recent fat, carbohydrate and alcohol intake, and should be measured after fasting for at least 12 hours. Elevated Triglyceride levels are considered to be a risk factor for both the development of heart disease and diabetes.
Xanthoma: A deposit of cholesterol and/or triglyceride in the skin or tendons of the body.
Xanthomas occur in people with several different kinds of blood lipid disorders. In familial hypercholesterolemia, Achilles tendon xanthomas are the hallmark of the diagnosis.
Xanthelasma: An orange yellowish, flat deposit of cholesterol on the eyelids or under the eyes, indicating that a blood lipid problem is likely to be present.
- What is Familial Hypercholesterolemia
- Homozygous Familial Hypercholesterolemia
- Do I have FH?
- What are the risks with FH?
- Women with FH & Pregnancy
- Children with FH
- Men with FH
- Tools and Resources