Primary mixed hyperlipidemia

Primary mixed hyperlipidemia
It is the most common genetic disorder of lipoprotein metabolism. The frequency is estimated at 1: 100 to 1:50. Heredity is usually marked as autosomal recessive.


 * Clinical manifestations: It often occurs in obese and diabetics . There are no xanthomas or arcus corneae; pathological manifestations of atherosklerosis (coronary heart disease, lower limb ischemia) do not begin until adulthood.


 * Biochemical findings: An abnormal lipid finding is usually not detected until adulthood. The serum is clear or opalescent. VLDL (pre-β-lipoproteins), also LDL (β-lipoproteins) and apoprotein B are elevated, [cholesterol]]  is between 10-15 mmol / l, triacylglycerols are between 2.26-5.65 mmol / l. HDL-cholesterol and apoprotein C-II and C-III are usually reduced. Lipoprotein electrophoresis shows familial combined hyperlipoproteinemia such as type IIb, IV or even IIa or V. Sometimes another fraction of pre-α (pre-α1 and pre-α2) is evident, caused by an increase in lipoprotein (a) [Lp (a)]. Chylomicrons are not detected on an empty stomach.


 * Pathobiochemistry: The cause is thought to be an abnormally high synthesis of Apo B in the liver, accompanied by increased VLDL production.


 * Prognosis: A common complication is myocardial infarction before the age of 60; an association with diabetes and obesity is common.


 * Healing:
 * Above all, lifestyle modification: weight reduction, diet with lower fat content (preference for fat with unsaturated fatty acids instead of saturated ones) - reduction of cholesterol intake.
 * Drug therapy only in patients for whom lifestyle modification has not been shown to be helpful; fibrates, are most often used, ev.resins, (e.g. Lipanthyl® or Gevilon® in combination with Colestide®); sometimes nicotic acid helps.

Source

 * MASOPUST, Jaroslav and Richard PRŮŠA. Pathobiochemistry of metabolic pathways. 1st edition. Prague: Charles University, 1999. 182 pp.  ISBN 80-238-4589-6.