The hypolipidemic is a reduction of plasma lipoproteins, the primary (genetic) or secondary causes has. It is usually asymptomatic and is usually discovered by chance during a routine examination of blood lipid levels. The treatment of secondary hypolipidemic is the treatment of the underlying disease. The treatment of primary hypolipidaemia is often unnecessary, still require patients with genetic disorders in high doses of vitamin E as well as supplementation of fats and fat-soluble vitamins.
The hypolipidemic is a reduction of plasma lipoproteins, the primary (genetic) or secondary causes has. It is usually asymptomatic and is usually discovered by chance during a routine examination of blood lipid levels. The treatment of secondary hypolipidemic is the treatment of the underlying disease. The treatment of primary hypolipidaemia is often unnecessary, still require patients with genetic disorders in high doses of vitamin E as well as supplementation of fats and fat-soluble vitamins. A hypolipidemic etiology is defined as TC <120 mg / dl (<3.1 mmol / l) LDL or <50 mg / dl (<1.3 mmol / l). Secondary causes are far more common than primary causes. These include: hyperthyroidism Chronic infections (including hepatitis C infection) and other inflammatory conditions hematologic cancers and other malnutrition (including the accompanying chronic alcohol consumption) malabsorption Negative test results make a primary cause likely. The unexpected occurrence of a low cholesterol or low LDL in patients who do not receive lipid lowering medication should have a diagnostic evaluation with regard to secondary causes the measurement of AST, ALT and TSH result. There are three primary disorders in which lead one or more genetic mutations to a decreased production or increased catabolism of LDL. Abetalipoproteinemia (Bassen-Kornzweig syndrome) This autosomal recessive disease caused by mutations in the gene for microsomal triglyceride (TG) -Transferprotein, a protein which (a crucial role in the formation of chylomicrons and very-low-density lipoprotein VLDL) plays. Fats from food can not be absorbed and lipoproteins from both pathways are missing almost completely in the serum. TC is typically <45 mg / dl (1.16 mmol / l), TGs are <20 mg / dl (<0.23 mmol / l) and LDL is not detectable. The disease is usually first detected in children with fat malabsorption, steatorrhea and failure to thrive and can lead to mental retardation. Because vitamin E is distributed via VLDL and LDL in the periphery, people severely affected often develop a severe vitamin E deficiency. Symptoms and clinical signs are changes in vision due to a slow retinal degeneration, sensory neuropathy, posterior column signs and cerebellar disorders such Dysmetria, ataxia and spasticity, which can lead to death. A acanthocytosis of erythrocytes is an important criterion in the blood smear. Intestinal biopsies show the lack of microsomal transfer protein. The diagnosis is made by the absence of apo B (Apo B) in plasma. The treatment consists of high doses (100-300 mg / kg 1 time a day) of vitamin E and the supplementation of dietary fat and other fat-soluble vitamins. The prognosis is schlecht.Hypobetalipoproteinämie the hypobetalipoproteinemia is an autosomal dominant or codominant disease that is caused by mutations in the gene for apo B. Heterozygous patients have a deformed Apo B, resulting in a fast LDL degradation. Heterozygous patients show no symptoms, except for the TC values ??<120 mg / dl (<3.1 mmol / l) and LDL values ??<80 mg / dl (<2.1 mmol / l). The TGs are normal. Homozygous patients have either an Apo-B synthesis with very strongly deformed Apo B, which leads to lower lipid levels (TC <80 mg / dl [<2.1 mmol / l], LDLs <20 mg / dl [<0.52 mmol / l]), or even a lack of Apo-B-synthesis, which leads to the symptoms and clinical signs of abetalipoproteinemia. Hypobetalipoproteinemia and abetalipoproteinemia be distinguished on the basis of family history of each other. Diagnosis is made by the detection of low levels of LDL, and Apo B. Heterozygous and homozygous individuals with low but detectable LDL levels do not require therapy. Treatment of homozygous individuals without LDL is identical therapy in Abetalipoproteinemia. Loss of function mutations in PCSK9 is another cause for low LDL levels. There are no side effects and no Behandlung.Chylomikronenretentionskrankheit The Chylomikronenretentionskrankheit is a very rare autosomal recessive disease that leads by an unknown mutation in a reduced Apo B secretion from enterocytes. The chylomicron missing, but the VLDL synthesis remains intact. Affected children suffer from fat malabsorption, steatorrhea and a failure to thrive and may have similar to those in Abetalipoproteinemia neurological disorders. Diagnosis is made by an intestinal biopsy of patients with low cholesterol levels and the absence of postprandial chylomicron. The therapy consists of the supplementation of fat and fat-soluble vitamins.