Lipid Metabolism Disorders (Hyperlipoproteinemias): Classification

Primary and secondary hyperlipoproteinemias can be distinguished:

I. Primary hyperlipoproteinemias (HLP)

Primary hypercholesterolemia

Form Description Incidence Distribution of fats
Familial hypercholesterolemia (FH) Autosomal-dominantly inherited defect of the LDL receptor
  • Homozygous form: 1: 250,000 to 1: 1,000,000.
  • Heterozygous form: about 1: 500
LDL ↑
Autosomal recessive hypercholesterolemia Mutations in the LDLRAP1 gene with impaired uptake of LDL cholesterol into the cell by the LDL receptors < 1: 1.000.000 LDL ↑
Familial ApoB-100 defect Defect in the major lipoprotein of LDL cholesterol 1: 200 to 1: 700 LDL ↑
Familial defect in the PCSK9 gene Mutations in the PCSK9 gene with increased degradation of LDL receptors and consequent delayed degradation of LDL cholesterol very rarely LDL ↑
Specific ApoE phenotypes Individuals with ApoE phenotype 3/4 or 4/4 exhibit decreased LDL receptor activity k. A. LDL ↑
Sitosterolemia(synonym: phytosterolemia). Physiologically uncontrolled cholesterol absorption and storage of sterols (especially of plant origin) < 1: 1.000.000 LDL ↑
Polygenic hypercholesterolemia Polygenic form with hereditary component and additional exogenous factors (e.g., overweight (obesity), diet, etc.) Increase with age LDL ↑

Primary hypertriglyceridemia

Form Description Incidence Distribution of fats
Familial hypertriglyceridemia Polygenic disease (multiple defects) 1: 500 VLDL ↑Triglyceride ↑HDL ↓
Familial apoC-II deficiency Autosomal recessive defect of the cofactor of LPL < 1: 1.000.000 Chylomicrons ↑Triglycerides ↑
Familial LPL deficiency Autosomal recessive LPL deficiency (lipoprotein lipase deficiency <1: 500,000 to !,1,000,000 VLDL ↑Triglyceride levels > 1,000 mg/dl.

Mixed hyperlipidemia

Form Description Incidence Distribution of fats
Familial dysbetalipoproteinemia ApoE phenotype 2/2 1: 10.000 LDL ↑Triglycerides ↑
Familial combined hyperlipidemia Polygenic disease due to overproduction of ApoB-100 1: 200 to 1: 300 LDL ↑VLDL ↑Triglycerides ↑

Legend

  • Apo: apolipoprotein
  • HDL: high density lipoproteins
  • LDL: low density lipoproteins
  • VLDL: very low density lipoproteins
  • LPL: lipoprotein lipase

II. secondary hyperlipoproteinemias

These occur in the following underlying diseases, among others:

Underlying disease LDL HDL Triglycerides
Endocrine, nutritional and metabolic diseases
Obesity (obesity)
Acromegaly
Diabetes mellitus ↑↑
Hypercortisolism (excess of cortisol).
Hyperuricemia (uric acid metabolism disorder.
Hypothyroidism (underactive thyroid gland) ↑↑ ↔ ↑
Growth hormone deficiency (hyposomatotropism, GHD, Engl.”growth hormone deficiency”)
Hepatopathies (liver diseases)
Cholestasis (bile stasis)
Hepatitis (liver inflammation) ↔ ↑
Liver cirrhosis
Nephropathies (kidney diseases)
Nephrotic syndrome ↑↑
Renal insufficiency (kidney weakness) ↔ ↑ ↔ ↓ ↑↑
Kidney transplant ↑↑
Varia
Alcohol abuse (alcohol dependence; alcoholism)
Anorexia (Anorexia nervosa) ↔ ↓

Legend

  • LDL: “low-density lipoprotein”
  • HDL: “high-density lipoprotein”