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 |
|
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”