Lipid metabolism disorder

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Classification according to ICD-10
E78.- Disorders of lipoprotein metabolism and other lipidemias
ICD-10 online (WHO version 2019)

In the case of a lipid metabolism disorder , also known as dyslipidemia , the cholesterol and / or triglyceride level and / or the blood concentration of lipoprotein a (Lp (a) for short) are changed, mostly elevated values. More rarely, phospholipids , cholesterol esters , or free fatty acids can also cause the disorder.

Emergence

The body absorbs many different fats through food . These fats and also the body's own fats are transported in the blood . The non-water-soluble fats bind to proteins for transport. This creates so-called lipoproteins that are distributed throughout the blood.

If there are too many lipoproteins in the blood, they penetrate the vessel walls and cause an inflammatory reaction through oxidation . To combat this, special phagocytes, the so-called macrophages , migrate into the vessel wall to break down the excess lipoproteins. The fully eaten macrophages, which normally emerge from the vessel wall after the oxidized fats have been successfully “consumed”, are no longer able to do this because an endothelial cell layer has formed over them during the eating process . The resulting narrowing of the blood vessel (because the macrophages have a certain volume) creates a high risk of heart attack and stroke . If the plaque under the cell layer (the “eaten up” macrophages) bursts, a large blood clot forms, which blocks the path for the blood cells from one second to the next. Vascular occlusion occurs (heart attack or stroke depending on the position of the plaque).

Forms of disorder

Lipid metabolism disorders can be classified according to cause (etiology) or appearance (phenotype).

Fredrickson's classification of hyperlipidemias:

Phenotype I. IIa IIb III IV V
Elevated lipoprotein Chylomicrons LDL LDL and VLDL IDL VLDL VLDL and chylomicrons
increase Decrease
Lipid
Lipoprotein
Both

Lipid metabolism disorders can be divided into two groups according to the cause, the primary and the secondary lipid metabolism disorders .

Primary lipid metabolism disorder

The primary forms of the disorder are based on a hereditary metabolic defect. These include the primary forms of hyperlipoproteinemia and hypertriglyceridemia . However, not only inheritance plays a role. Other factors such as diet or obesity also influence the development of the disorder.

Secondary lipid metabolism disorder

The secondary forms of the disorder do not arise because of a genetic defect, but because of various diseases:

Furthermore, the use of certain medications can promote the development of the disorder:

In contrast to the primary metabolic disorders, the secondary lipid metabolic disorders can mostly be cured by curing the original diseases on which the disorder is based.

Familial hypolipidemia

Familial hypobetalipoproteinemia

Familial hypobetalipoproteinemia is an autosomal dominant inherited genetic defect. It affects certain apolipoprotein  B genes. The incidence of the disease is 1: 500 to 1: 1 million, depending on the inheritance pattern. The consequence of the gene mutation are functionless molecules of the apolipoproteins B48 and B100. These functionless molecules presumably inhibit apo-B synthesis, so that the production of chylomicrons and VLDL decreases. In homozygous carriers of genetic defects, this leads to malabsorption of fat and fat-soluble vitamins (such as vitamin E ) even in childhood . Heterozygotes remain symptom-free.

Familial abetalipoproteinemia

Familial abetalipoproteinemia is a very rare genetic defect that affects microsomal triglyceride transfer protein (MTP). The genetic defect is inherited as an autosomal recessive trait. It prevents the transfer of triacylglycerides and phospholipids to the Apo-B proteins and thus the formation of all β-lipoproteins . The congenital disease manifests itself in children as fat malabsorption and consequent vitamin E deficiency.

Familial hypoalphalipoproteinemia

The origin of this rare, autosomal dominant inherited genetic defect is unknown. The result is a cholesterol return disorder due to low HDL cholesterol. It leads to xanthomas and corneal opacities. The risk of a heart attack is increased.

Apolipoprotein A1 mutations

The very rare mutations of the apolipoprotein A1 gene cause a reduction in HDL cholesterol production. The risk of a heart attack is increased.

Lecithin Cholesterol Acyltransferase (LCAT) deficiency

This deficiency is a known defect in the lecithin-cholesterol-acyltransferase gene, which is inherited in an autosomal recessive manner. An LCAT defect has two effects: the disruption of the esterification of cholesterol on HDL particles and the accumulation of free cholesterol on lipoproteins in the tissue. The consequences are renal insufficiency, corneal opacity, hemolytic anemia and premature arteriosclerosis.

Tangier disease

Tangier disease is a rare, autosomal recessive inherited genetic defect of the ABCA 1 gene. It was first observed on Tangier Island, Virginia, USA. The ABCA 1 protein is responsible for removing cholesterol from certain cells such as macrophages. Orange-colored tonsils are a typical symptom of the disease . Hepatosplenomegaly , corneal opacity, peripheral neuropathy, and premature coronary artery disease can occur as a consequence of the disease .

Symptoms

This article or the following section is not adequately provided with supporting documents ( e.g. individual evidence ). Information without sufficient evidence could be removed soon. Please help Wikipedia by researching the information and including good evidence.

In addition to changes in blood lipid levels, the following symptoms may occur individually or in combination with a lipid metabolism disorder:

  • Formation of fat nodules on the hand, wrist, ankle, eyelid or buttocks,
  • Opacity rings (gray, white or yellow) around the cornea,
  • recurrent inflammation of the pancreas,
  • Fatty liver that causes pain .

If one or more of these signs can be recognized, a doctor should be consulted for a more precise diagnosis and targeted treatment.

treatment

To combat a lipid metabolism disorder, one must lower the cholesterol level in the blood. This is done primarily through a lifestyle change with a change in diet and increased physical activity. If a change in lifestyle does not lead to a sufficient decrease in blood cholesterol levels, medication must be used. If the medication is also insufficient, which can be the case in severe familial lipid metabolism disorders, plasmapheresis is sometimes necessary. The drugs used for lipid metabolism disorders usually contain one or more of the following active ingredients:

The choice of active ingredient depends on the type of increased fat level in the blood. Today, however, mostly CSE inhibitors or fibrates are used. There are 3 groups of increased fat values:

  • Isolated hypercholesterolemia

In isolated hypercholesterolemia, only the cholesterol level is increased, the other blood lipid levels are in the normal range. Almost all types of lipid-lowering nuclei can be used for therapy.

  • Mixed hyperlipidemia

In mixed hyperlipidemia, both cholesterol and triglycerol levels are increased. As a rule, CSE inhibitors and / or fibrates are used for therapy.

  • Isolated hypertriglyceridemia

In isolated hypertriglyceridemia, only the triglyceride value is increased, the other blood lipid values ​​are in the normal range. The treating doctor primarily uses nicotinic acid and / or fibrates for therapy.

literature

  • Wolfgang Piper (Ed.): Internal medicine . 2nd Edition. SpringerMedizin, Berlin / Heidelberg 2013, ISBN 978-3-642-33107-7 .
  • O. Adam: Omega-3: Fitness through fish and oils: this is how nature helps with cardiovascular diseases, high blood pressure, arteriosclerosis, rheumatism, diabetes, allergies. Hädecke, 2000, ISBN 3-7750-0326-6 .
  • C. Eckert-Lill: The fight against cholesterol. Patient guide Govi ​​Verlag.
  • R. Franke, A. Steinmetz: Increased cholesterol level. (= rororo, paperbacks no.60447). Rowohlt TB., 1998.
  • M. Hanefeld: Statins - New Perspectives in the Treatment of Lipid Metabolism Disorders and Prevention of Arteriosclerosis. UNI-MED, Bremen 1999.
  • P. Schwandt, WO Richter, KG Parhofer: Handbook of fat metabolism disorders. Schattauer, 2001.
  • M. Szwillus: Enjoy low cholesterol - The convincing nutritional program for lowering blood lipid levels. Südwest-Verlag, 2001.
  • H. Vollmer: Atherosclerosis - The Avoidable Risk. Ehrenwirth, 1999.

Individual evidence

  1. ^ DS Fredrickson, RS Lees: A system for phenotyping hyperlipoproteinemia. In: Circulation. Volume 31, March 1965, pp. 321-327, ISSN  0009-7322 . PMID 14262568 .
  2. ↑ a b c d e f g h Wolfgang Piper (ed.): Internal medicine . 2nd Edition. SpringerMedizin, Berlin / Heidelberg 2013, ISBN 978-3-642-33107-7 , p. 489 .
  3. ↑ a b c d e f g h Wolfgang Piper (ed.): Internal medicine . 2nd Edition. SpringerMedizin, Berlin / Heidelberg 2013, ISBN 978-3-642-33107-7 , p. 490 .