Lipid metabolism disorders E78.9

Hyperlipoproteinaemia (HLP) or hyperlipidaemia is generally understood to be an increased concentration of cholesterol, triglycerides, lipoproteins with a shift in the relative proportion of the LDL or VLDL fraction in the blood. The lipoproteins of plasma consist of lipids (triglycerides, cholesterol, cholesterol esters and phospholipids) and apolipoproteins. Lipids are substances of plasma and cells that are soluble in hydrophobic organic solvents

According to Fredrickson 's classification, congenital lipometabolic disorders are divided into five classes that differ in clinical, laboratory and prognosis. It should be noted that the Fredrickson classification does not take into account lipoprotein a and does not consider the genetic causes underlying the hyperlipoproteinaemias.

The lipoproteins are classified according to density classes and functions as follows:

• Chylomicrons: 3% cholesterol/90% triglycerides. Function: exogenous glycerides from the intestine to extrahepatic tissues and the liver
• VDL (very low density lipoproteins): 15% cholesterol/65% triglycerides. Function: endogenous glycerides from the liver to extrahepatic tissues
• LDL VDL (low density lipoproteins): 45% cholesterol/10% triglycerides. Function:Choelsterol from the liver to extrahepatic tissues
• HDL (low density lipoproteins): 20% cholesterol/5% triglycerides. Function: Cholesterol from extrahepatic tissues.

A distinction is made between primary and secondary hyperlipoproteinaemias. Primary hyperlipoproteinaemia is a disease of its own, usually of genetic origin, whereas secondary hyperlipoproteinaemia is a consequence of other underlying diseases. Most patients with hyperlipoproteinaemia show a combination of genetic predisposition and external factors (lifestyle, diseases or medication).

E78 Disorders of lipoprotein metabolism and other lipidaemias (classification according to ICD)

• E78.0 Hereditary (familial) hypercholesterolemia
  • E 78.0 Polygenetic hypercholesterolemia
  • E 78.0 Monogenetic (autosomal dominant inherited) hypercholesterolemia
    • E 78.0 Autosomal dominant inherited familial hypercholesterolemia
    • E 78.0 Familial defective apolipoprotein B 100
    • E 78.0 Apolipoprotein E variants
• E78.1 Pure hypertriglyceridemia (familial hypertriglyceridemia)
  • E78.1 Endogenous hypertriglyceridemia
  • E78.1 Hyperlipidemia, Group B
  • E78.1 Hyperlipoproteinemia type IV according to Fredrickson
  • E78.1 Hyperlipoproteinaemia of the very-low-density-lipoprotein type (VLDL)
  • E78.1 Hyperprebetalipoproteinemia
• E78.2 Mixed hyperlipoproteinaemia
  • E78.2 Hyperbetalipoproteinemia with prebetalipoproteinemia
  • E78.2 Hypercholesterolemia with endogenous hypertriglyceridemia
  • E78.2 Hyperlipidemia, Group C
  • E78.2 Hyperlipoproteinemia type IIb or III according to Fredrickson
  • E78.2 Lipoproteinemia with broad beta-band (floating-betalipoproteinemia)
  • E78.2 Tubo-eruptive xanthoma
  • E78.2 Xanthoma tuberosum
• E78.3 Chylomicronemic syndrome (hyperchylomicronemia)
  • E78.3 Mixed hypertriglyceridemia
  • E78.3 Hyperlipidemia, Group D
  • E78.3 Hyperlipoproteinemia type I or V according to Fredrickson
• E 78.4 Other hyperlipidemia
  • E 78.4 Lipoprotein (a)-Hyperlipoproteinemia
• E78.5 Hyperlipidemia, not specified
• E78.6 Hereditary HDL depressions (lipoprotein deficiency)
  • E78.6 A-Betalipoproteinemia
  • E78.6 High-density lipoprotein deficiency
  • E78.6 Hypoalphalipoproteinemia
  • E78.6 Hypobetalipoproteinemia (familial)
  • E78.6 Lecithin cholesterol acyltransferase deficiency
  • E78.6 Tangier disease

Classification according to etiological aspects (vaiiert n. Oette K 2016):

Hereditary (familial) hypercholesterolemia E78.0

• Hereditary (polygenic) hypercholesterolemia (frequent)
• Hereditary (monogenetic or autosomal dominant) hypercholesterolemia (rare). The 3 most frequent enotypes of hereditary monogenetic hypercholesterolemia are phenotypically (clinically) not clearly distinguishable. In this respect, the term "autosomal dominant hypercholesterolemia" was additionally coined.
  • Familial hypercholesterolemia (FH) with autosomal dominant inheritance
  • Familial defective apolipoprotein B 100 (mutations in the LDL receptor ligand gene)
  • Apolipoprotein E variants
  • Autosomal-dominant hypercholesterolemia with PCSK9 mutation (rare disorders in LDL metabolism due to mutations in the PCSK9 gene coding for a serine protease )

Further lipid metabolism disorders

Familial combined (mixed) hyperlipoproteinemia (FKHL) E78.2

• Familial hypertriglyceridemia E78.1
• Familialdysbetalipoproteinemia E78.2
• Chylomicronemic syndrome E 78.3
• Lipoprotein(a) hyperlipoproteinaemia E 78.4
• HDL cholesterol decreases and increases
  • Hereditary HDL reductions E 78.6
    • Familial hypobetalipoproteinemia E78.6
    • Lecithin-cholesterol acyltransferase deficiency E78.6
    • Tangier disease E78.6
• HDL Cholesterol Elevations

Disorders of the lipoprotein metabolism are among the most frequently diagnosed diseases in Germany. In the algal group >40 years of age, >50% of the population in western industrialized countries have cholesterol levels >200mg/dl. Analogous values are available for the triglyceride values.

Hyperlipoproteinemias and dyslipoproteinemias are only symptoms. Basically, they can be assigned to 3 clearly definable groups as well as mixed forms:

• Reactive-physiological forms
• Primary forms (hereditary forms)
• Secondary forms (secondary to underlying diseases)
• Mixed forms

Causes of the secondary forms:

• Hypertriglyceridemias: diabetes mellitus; metabolic syndrome, obesity; high alcohol consumption, chronic liver and kidney diseases, medications (e.g. retinoids), etc.
• Hypercholesterolaemia: e.g. nephrotic syndrome, hypothyroidism, diabetes mellitus, drugs (e.g. glucocorticoids, retinoids)
• Mixed forms (combined hypertriglyceridemias/hypercholesterolemias): as in hypercholesterolemias

Therapy recommendations of the European Atherosclerosis Society

• Cholesterol-reducing diet: total fat reduction, vegetable fats rich in linoleic acid are preferred, cholesterol restriction (1 egg yolk = 270 mg cholesterol!), fibre (binds fats in the intestine), fish with omega-3 fatty acids.
• Triglycerin-reducing diet: total fat reduction, alcohol restriction, preference for vegetable fats rich in linoleic acid, low sugar, many small meals.