Dysbetalipoproteinemie

Familial dysbetalipoproteinemia (ie type III hyperlipoproteinemia, increase in β-VLDL)
Dysbetalipoproteinemia  (type III hyperlipidemia) is a rare inherited disorder characterized by a defect in the removal of chylomicron and VLDL residues. The underlying disorder is homozygosity for the mutant form of apo E (apo E 2 ), which binds poorly to liver receptors. As a result, chylomicron residues accumulate as well as cholesterol-rich VLDL (β-VLDL).


 * Clinical manifestations:
 * Various forms of xanthomas dominate :
 * tuberous xanthomas (in 80%),
 * palmar xanthomas (70%) - are characteristic,
 * tendon xanthomas (30%),
 * eruptive xanthomas (rare).
 * Hyperuricaemia and diabetes are observed in about half of patients.
 * Early atherosclerotic changes first affect the lower limbs and coronary arteries (in men before the age of 40, in women before the age of 50).

Characteristic appearance of ELFO-lipoproteins: "broad" β-fraction (merging pre-β and β fractions). There is an abnormal fraction between VLDL and LDL (so-called β-VLDL) on the polyacrylamide gel. An increase in the cholesterol / triacylglycerol ratio to> 0.30, a decrease in HDL and LDL cholesterol and, conversely, an increase in VLDL, IDL and chylomicron residues are characteristic.
 * Biochemical findings: Opalescent serum; increased both cholesterol and triacylglycerols: S-cholesterol usually above 7.5 mmol / l, sometimes up to 25 mmol / l, S-triacylglycerols 2-10 mmol / l, rarely 20 mmol / l.

Related articles

 * Disorders of lipid metabolism (detailed)
 * Lipoproteins

Source

 * MASOPUST, Jaroslav - PRUSA, Richard. Pathobiochemistry of metabolic pathways. 2nd edition. Charles University, 2004. 208 p.

Reference
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