Glossary of Terms
Some of the scientific and medical terminology used when speaking of FH is rather complex. We have set out explanations for some of the terms that patients and their family and friends may find confusing.
|Angina is a chest pain that occurs when the blood supply to the muscles of the heart is restricted. It usually happens because the arteries supplying the heart become hardened and narrowed. Most cases of angina are caused by atherosclerosis (see below).
|apheresis (‘therapeutic apheresis’)
|The process of apheresis involves removing whole blood from a patient or donor. The components of whole blood are separated within an instrument (essentially designed as a centrifuge). The filtration process removes LP(a) and LDL cholesterol from the blood or plasma and the remaining components are re-transfused into the patient or donor.
|Found on the surfaces of lipoproteins and are involved in receptor recognition at the cell surface
|The arteries are the blood vessels that deliver oxygen-rich (oxygenated’) blood from the heart to the tissues of the body. The largest artery is called the ‘aorta’.
|An abnormal heart rhythm – sometimes called an arrhythmia – means your heart is beating too fast, too slow, or with an irregular pattern. The most common abnormal heart rhythm is “atrial fibrillation – AF”. It is a fast heart rhythm – as is supraventricular tachycardia (SVT), ventricular tachycardia (VT) and ventricular fibrillation (VF). These are all known as “tachychardias”. The term “bradycardias” is used for slow heart rhythms such as AV heart block, bundle branch block and tachycardy syndrome.
|The material containing cholesterol, degenerate muscle cells, blood clot, blood platelets and fibrous tissue, which forms on the inner surface of arteries in the disease of atherosclerosis and which promotes thrombosis and obstruction to the blood flow. From the Greek athara, gruel or porridge and oma a lump –Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
|The build-up in the arteries of fatty material, known as plaques. This causes the hardening and narrowing of arteries and can restrict the blood supply to the heart and trigger the symptoms of angina.
|If a disease is autosomal dominant, you only need to inherit the gene from one parent to get the disease. This happens even when the matching gene from the other parent is normal. The abnormal gene dominates.
|Coronary heart disease (please see definition below)
|CVD – cardiovascular disease
|A collective term for circulatory diseases such as coronary heart disease (CHD), stroke, mini stroke and peripheral vascular disease (PVD).
|These are the arteries in your neck that supply blood to your brain
|This is a waxy, fatty substance which travels through the bloodstream attached to small packages called lipoproteins. The lipoproteins are made up of fat (lipid) on the inside and proteins on the outside. It plays a vital role in how every cell works and is also needed to make Vitamin D, some hormones and bile for digestion. Too much cholesterol in the blood, however, can increase your risk of getting heart and circulatory diseases. Cholesterol is mainly made by the liver, but can also be found in some foods. When cholesterol and proteins are combined, they are called lipoproteins. The two main types are ‘high-density lipoprotein’ (HDL) and ‘low-density lipoprotein (LDL). (Please also see ‘HDL’ and ‘LDL’).
|The arteries that supply blood to your heart
|coronary heart disease (CHD)
|CHD is when your coronary arteries become narrowed by a gradual build-up of fatty material within their walls. These arteries supply your heart muscle with oxygen-rich blood. Previously this was usually called “ischaemic heart disease”
|chylomicrons, VLDL, LDL, HDL, IDL
|Types of lipoproteins that carry fat around in the blood (see lipoproteins)
|A general term for an altered and unhealthy pattern of blood fats
|genome sequencing (personal genome sequencing)
|Personal genome sequencing allows you to discover your heritable genetic identity. Virtually every individual on earth carries a unique set of variations in their DNA sequence – this affects their outward appearance, behaviour and can also indicate susceptibility to disease. This is an area in which considerable technological progress has been made in recent years and continues to be made. At present, this type of sequencing includes portions of the genome that are not yet well understood and includes genes whose function is not yet known.
|Genetic tests are currently available to look for known genetic mutations associated with particular diseases. These tests usually characterize only one gene (or specific parts of one gene). Where tests are for conditions which have specific genetic causes (e.g. Hungtington’s disease (Huntington’s chorea) the tests are considered to be relatively straightforward. Progress is, however, more challenging in predicting an individual’s risk for complex and multifactorial diseases such as diabetes and heart disease.
|The genotype is the unique genome revealed by personal genome sequencing (see ‘genome sequencing’ above), but may also refer just to a particular gene or set of genes carried by an individual, such as the mutation linked to diabetes.
|HDL (high density lipoprotein)
|Often referred to as ‘good cholesterol’ since it protects against heart disease by taking the ‘bad’ cholesterol out of your blook and keeping it from building up in your arteries. It does this by carrying cholesterol away from the cells and back to the liver, where it is either broken down or passed out of the body as a waste product. A higher number for this cholesterol is considered better.
|This is the term used for having an excessively high level of lipids in your blood.
|Vascular disease, i.e. restricted or inadequate blood supply to tissues in the blood causing them to be starved of oxygen (when referring to oxygen supply to an organ ‘cardiac ischaemia’ refers to the heart, ‘renal ischaemia’ refers to the kidneys)
|Ischaemic heart disease
|See “coronary heart disease”
|LDL (low density lipoprotein)
|This is often known as ‘bad cholesterol’. LDL cholesterol can build up on the walls of your arteries and increase the risk of getting heart disease. Lower cholesterol numbers are considered better for health.
|Another word for lipids is the everyday term “fats”. Lipids are an important part of living cells. Cholesterol and triglycerides are lipids. Compound lipids (lipids complexed with another type of chemical compound) comprise the lipoproteins, glycolipids and phospholipids. The term ‘lipid’ derives from the Greek ‘lipos’ which referred to animal fat or vegetable oil.
|Lipoproteins are small spherules that transport fats in the body and consist of protein, cholesterol, triglycerides, and phospholipids. There are five main classes of lipoproteins:1. chylomicrons2. very low density lipoproteins (VLDL)3. intermediate density lipoproteins (IDL)4. low density lipoproteins (LDL)5. high density lipoproteins(The largest lipoproteins are about one-tenth the size of a red blood cell.)
|The arteries that supply blood to the legs
|A phenotype is a description of an individual’s actual physical characteristics (height, colour of eyes etc) but also a person’s overall health, disease history – and may even include a person’s disposition (calm, anxious, propensity to put on weight etc). A phenotype may change continually throughout the life of an individual because of environmental changes and also the physiological and morphological changes which occur as one ages. Examples of environmental influence include family members growing up separately in different countries, twins who grown up in separate and dissimilar families.
|Statins are a common class of cholesterol-lowering drugs – they inhibit the natural production of cholesterol in the liver and are usually offered to people who have been diagnosed with coronary heart disease or another cardiovascular disease, or whose personal or family medical history suggests they are likely to develop it during the next ten years. For most other people, the first way to tackle high cholesterol is by making changes to diet and becoming more active – please see UK NHS ‘Choices’ website http://www.nhs.uk/livewell/healthyhearts/pages/cholesterol.aspx
|A stroke occurs when not enough blood reaches your brain. If the blood supply is limited for a short time, this can cause a mini-stroke, known as a “TIA”. If the fatty material breaks down or ruptures, it can completely block the artery and is life-threatening: speedy treatment is important to improve the outcome. The most common type of stroke is an ischaemic stroke – a blood clot or other blockage cuts off the blood supply to the brain e.g. when atherosclerosis occurs. In a minority of cases a stroke can be caused by an area of bleeding into the brain. This is known as a “haemorrhagic stroke” and should be treated as a medical emergency.
|Generation or production of clots
|transient ischaemic attack (TIA)
|A TIA is a set of symptoms that occur as a result of a temporary lack of blood supply to the brain. (see Stroke)
|Another name for fat – it is found in foods and in the blood. Triglycerides are made from three fatty acids and one glycerol molecule converted into triglycerides and stored in fat cells throughout the body.
|A vein is a blood vessel that carries blood low in oxygen content from the body back to the heart. The deoxygenated form of haemoglobin in venous blood makes it appear dark.
|A xanthoma is a nodule, papule or plaque in the skin due to lipid deposits. It may indicate an underlying disease, usually related to abnormal metabolism of lipids, including cholesterol. Usually yellow, but possibly brown, reddish or cream in colour. Xanthomas may range in size and shape – being either tiny pinheads or large nodules, shape may be round, flat or irregular. Xanthomas are often found around the eyes, joints, neck, palms or over tendons. These lipid deposits are not limited to the skin but are found throughout the body in bones, heart, blood vessels, liver and other organs.
FH Europe is supported by an educational grant from Amgen Limited, Sanofi, Regeneron, Akcea Therapeutics Inc. and Amryt