Lipoprotein disorders causes
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Lipoprotein Disorders Microchapters |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hyperlipidemia can occur as either a primary event or secondary to some underlying disease. The primary hyperlipidemias include chylomicronemia, hypercholesterolemia, dysbetalipoproteinemia, hypertriglyceridemia, mixed hyperlipoproteinemia, and combined hyperlipoproteinemia. Other diseases, such as diabetes mellitus, pancreatitis, renal disease, and hypothyroidism, can cause the secondary form.
Causes
Primary hyperlipidemia
Hyperlipoproteinemia type I
- Deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2
Hyperlipoproteinemia type II
Type IIa
- Familial hypercholesterolemia
- Sporadic (due to dietary factors)
- Polygenic (multiple abnormalities in LDL metabolism)
- Truly familial (as a result of a mutation in the LDL receptor gene on chromosome 19 (0.2% of the population), the apo B gene (0.2%) or the proprotein convertase subtilisin kexin 9 (PCSK9) gene (very rare))
Type IIb
- Familial combined hyperlipoproteinemia (FCH)
- Overproduction of hepatically-derived apo B-100 associated with VLDL
- Overproduction of substrates, including triglycerides and acetyl-CoA
- Decreased clearance of LDL
Hyperlipoproteinemia type III
- Presence of apo E E2/E2 genotype resulting in cholesterol-rich VLDL (β-VLDL)
Hyperlipoproteinemia type IV
- Familial hypertriglyceridemia
- Genetic defect, which is passed on in an autosomal dominant fashion
Hyperlipoproteinemia type V
- Very similar to type I, but with high VLDL in addition to chylomicrons
- Associated with glucose intolerance and hyperuricemia
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency[1]
- Caused by mutations of the LCAT gene located on chromosome 16q22, which is passed on in an autosomal recessive fashion
- Associated with corneal opacities, hemolytic anaemia, and proteinuria
Secondary hyperlipidemia
Secondary to some underlying "non-lipid" etiology
- Type 2 diabetes mellitus [2]
- Nephrotic syndrome
- Chronic renal failure
- Cholestatic liver diseases
- Hypothyroidism[3]
- Smoking
- Obesity
- Drugs
- Oral estrogens
- Thiazide diuretics
- Beta blockers
- Atypical antipsychotic agents, such as clozapine and olanzapine
- Antiretroviral drugs used for HIV infection, in particular the protease inhibitors
References
- ↑ McIntyre N (1988). "Familial LCAT deficiency and fish-eye disease". J Inherit Metab Dis. 11 Suppl 1: 45–56. PMID 3141686.
- ↑ Zavaroni I, Dall'Aglio E, Alpi O, Bruschi F, Bonora E, Pezzarossa A; et al. (1985). "Evidence for an independent relationship between plasma insulin and concentration of high density lipoprotein cholesterol and triglyceride". Atherosclerosis. 55 (3): 259–66. PMID 3893447.
- ↑ O'Brien T, Dinneen SF, O'Brien PC, Palumbo PJ (1993). "Hyperlipidemia in patients with primary and secondary hypothyroidism". Mayo Clin Proc. 68 (9): 860–6. PMID 8371604.