Hyperlipidemia, hyperlipoproteinemia, dyslipidemia or hyperlipidaemia (British English) is the presence of raised or abnormal levels of lipids and/or lipoproteins in the blood. Lipids (fatty molecules) are transported in a protein capsule, and the density of the lipids and type of protein determines the fate of the particle and its influence on metabolism.
Lipid and lipoprotein abnormalities are extremely common in the general population, and are regarded as a highly modifiable risk factor for cardiovascular disease due to the influence of cholesterol, one of the most clinically relevant lipid substances, on atherosclerosis. In addition, some forms may predispose to acute pancreatitis.
Hyperlipidemias are classified according to the Fredrickson classification which is based on the pattern of lipoproteins on electrophoresis or ultracentrifugation. It was later adopted by the World Health Organization (WHO). It does not directly account for HDL, and it does not distinguish among the different genes that may be partially responsible for some of these conditions. It remains a popular system of classification, but is considered dated by many.
Fredrickson classification of Hyperlipidemias
|Hyperlipoproteinemia||Synonyms||Defect||Increased lipoprotein||Treatment||Serum appearance|
|Type I (rare)||''Buerger-Gruetz syndrome'', ''Primary hyperlipoproteinaemia'', or ''Familial hyperchylomicronemia''||Decreased lipoprotein lipase (LPL) or altered ApoC2||Chylomicrons||Diet control||Creamy top layer|
|Type IIa||''Polygenic hypercholesterolaemia'' or ''Familial hypercholesterolemia''||LDL receptor deficiency||LDL||Bile acid sequestrants, statins, niacin||Clear|
|Type IIb||''Combined hyperlipidemia''||Decreased LDL receptor and increased ApoB||LDL and VLDL||Statins, niacin, fibrate||Clear|
|Type III (rare)||''Familial dysbetalipoproteinemia''||Defect in Apo E 2 synthesis||IDL||Fibrates, statins||Turbid|
|Type IV||''Familial hyperlipemia''||Increased VLDL production and Decreased elimination||VLDL||Fibrate, niacin], statins||Turbid|
|Type V (rare)||''Endogenous hypertriglyceridemia''||Increased VLDL production and Decreased LPL||VLDL and Chylomicrons||Niacin, fibrate||Creamy top layer & turbid bottom|
Hyperlipoproteinemia type I
Type I hyperlipoproteinemia''' is a form of hyperlipoproteinemia associated with deficiencies of lipoprotein lipase.
Hyperlipoproteinemia type II
Hyperlipoproteinemia type II, by far the most common form, is further classified into type IIa and type IIb, depending mainly on whether there is elevation in the triglyceride level in addition to LDL cholesterol.
This may be sporadic (due to dietary factors), polygenic, or truly familial as a result of a mutation either in the LDL receptor gene on chromosome 19 (0.2% of the population) or the ApoB gene (0.2%). The familial form is characterized by tendon xanthoma, xanthelasma and premature cardiovascular disease. The incidence of this disease is about 1 in 500 for heterozygotes, and 1 in 1,000,000 for homozygotes.
The high VLDL levels are due to overproduction of substrates, including triglycerides, acetyl CoA, and an increase in B-100 synthesis. They may also be caused by the decreased clearance of LDL. Prevalence in the population is 10%.
- Familial combined hyperlipoproteinemia (FCH)
- Secondary combined hyperlipoproteinemia (usually in the context of metabolic syndrome, for which it is a diagnostic criterion)
Hyperlipoproteinemia type III
This form is due to high chylomicrons and IDL (intermediate density lipoprotein). Also known as ''broad beta disease'' or ''dysbetalipoproteinemia'', the most common cause for this form is the presence of ApoE E2/E2 genotype. It is due to cholesterol-rich VLDL (β-VLDL). Prevalence is 0.02% of the population.
Hyperlipoproteinemia type IV
This form is due to high triglycerides. It is also known as ''hypertriglyceridemia'' (or ''pure hypertriglyceridemia''). According to the NCEP-ATPIII definition of high triglycerides (>200 mg/dl),
prevalence is about 16% of adult population.
Hyperlipoproteinemia type V
This type is very similar to type I, but with high VLDL in addition to chylomicrons.
It is also associated with glucose intolerance and hyperuricemia
Non-classified forms are extremely rare:
- Hypo-alpha lipoproteinemia
- Hypo-beta lipoproteinemia (prevalence 0.01-0.1%)
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