Lipoprotein disorders causes

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Lipoprotein Disorders Microchapters

Patient Information

Overview

Causes

Classification

Hyperlipoproteinemia
Hypolipoproteinemia

Treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hardik Patel, M.D.

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

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

References

  1. McIntyre N (1988). "Familial LCAT deficiency and fish-eye disease". J Inherit Metab Dis. 11 Suppl 1: 45–56. PMID 3141686.
  2. Rosenson RS, Baker AL, Chow MJ, Hay RV (1990). "Hyperviscosity syndrome in a hypercholesterolemic patient with primary biliary cirrhosis". Gastroenterology. 98 (5 Pt 1): 1351–7. PMID 2323525.
  3. 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.
  4. 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.
  5. Hubert HB, Feinleib M, McNamara PM, Castelli WP (1983). "Obesity as an independent risk factor for cardiovascular disease: a 26-year follow-up of participants in the Framingham Heart Study". Circulation. 67 (5): 968–77. PMID 6219830.
  6. Facchini FS, Hollenbeck CB, Jeppesen J, Chen YD, Reaven GM (1992). "Insulin resistance and cigarette smoking". Lancet. 339 (8802): 1128–30. PMID 1349365.
  7. Henderson DC (2001). "Clozapine: diabetes mellitus, weight gain, and lipid abnormalities". J Clin Psychiatry. 62 Suppl 23: 39–44. PMID 11603884.
  8. Osser DN, Najarian DM, Dufresne RL (1999). "Olanzapine increases weight and serum triglyceride levels". J Clin Psychiatry. 60 (11): 767–70. PMID 10584766.


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