Lipid metabolism disorders/dyslipidaemia 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

According to the results of a meta-analysis of ≥200 population-based studies worldwide (Ballena-Caicedo et al. 2025):

Prevalence: 1 in 3 people worldwide are affected by dyslipidemia. 

Epidemiological changes in recent years (2000–2025):

Wealthy industrialized nations have seen a slight decline in average cholesterol levels following a prolonged rise (due to medical interventions), with little change in triglyceride (TG) levels;

In contrast, theMiddle East, Latin America , and Asia (growing industrialization) have seen a significant increase in average cholesterol levels, as well as a rise in triglyceride levels (due to changing dietary habits and increasingly sedentary lifestyles), particularly Cities are showing a significant increase in unhealthy lipid levels due to the rise of Western lifestyles characterized by highly processed foods, sweets, sugary soft drinks, and animal products.

Overall, prevalence shows strong regional differences (e.g., Eastern and Western Europe), as well as differences by age and gender (Ballena-Caicedo et al. 2025).

According to this meta-analysis, Germany ranks second globally behind Lithuania for high LDL-C (58.70%) (In addition to genetics, the continued, extremely strong influence of the automotive, meat, and confectionery industries on our lifestyle likely plays a role here, repeatedly thwarting our good intentions or nipping them in the bud! Author’s note).

In general, and in Germany as well, lipid metabolism disorders are diagnosed far too late, usually only after acute cardiovascular events (MI, stroke, etc.). Through early and regular monitoring of blood lipid levels (e.g., during preventive checkups or targeted screening), the risk could be identified and addressed at an early stage (see Dyslipidemia/Treatment Options). This would make it possible to prevent a large number of serious illnesses and deaths !

Not only are lipid metabolism disorders diagnosed insufficiently or too late, but they are also inadequately treated. Only about one-third of diagnosed cases receive adequate lipid-lowering therapy (Reference ...). Among high-risk patients (especially those who have already suffered a cardiovascular event), according to the DA VINCI study (across Europe), only 16–19% of patients receive guideline-based, risk-adapted combination lipid-lowering therapy to achieve the strict target levels (Reference...).

Globally, the epidemiological trend is shifting away from the previously predominant hypercholesterolemia toward increased hypertriglyceridemia combined with reduced HDL-C, which is typically associated with the rapidly rising prevalence of overweight/obesity, insulin resistance, MetS, and T2DM. Consequently, a significantpro-atherogenic risk persists , as does an unabated risk of serious cardiovascular disease, which must be urgently addressed through further interventions in the areas of prevention and public health (Ballena-Caicedo et al. 2025).

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

• 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.