Disbetalipoproteinemia y otras alteraciones relacionadas con la apolipoproteína E
Autor: | I. Gracia-Rubio, Fernando Civeira, Ana Cenarro, Ana M. Bea |
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Rok vydání: | 2021 |
Předmět: |
Apolipoprotein E
medicine.medical_specialty Very low-density lipoprotein Apolipoprotein B 030204 cardiovascular system & hematology Atheromatosis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Internal medicine medicine Pharmacology (medical) 030212 general & internal medicine Fenofibrate biology business.industry Cholesterol nutritional and metabolic diseases Endocrinology chemistry biology.protein lipids (amino acids peptides and proteins) Cardiology and Cardiovascular Medicine business medicine.drug Lipoprotein Chylomicron |
Zdroj: | Clínica e Investigación en Arteriosclerosis. 33:50-55 |
ISSN: | 0214-9168 |
Popis: | Dysbetalipoproteinaemia (or type III hyperlipoproteinaemia) is a severe mixed hyperlipidaemia resulting from the accumulation of remnant chylomicron and VLDL particles in plasma, also called β-VLDL. It is caused by a defect in the recognition by hepatic LDL and lipoprotein receptor-related protein (LRP) of β-VLDL. Mutations in the APOE gene, especially in subjects homozygous for the ɛ2/ɛ2 allele, are responsible for this lack of receptor recognition. Dysbetalipoproteinaemia represents 2-5% of the mixed dyslipidaemias seen in Lipid Units, is highly atherogenic and predisposes to diffuse atheromatosis, either coronary, peripheral vascular, or carotid, so early diagnosis and treatment is necessary. The presence of hypertriglyceridaemia, with non-HDL cholesterol/apolipoprotein B ratios>1.43 (in mg/dL) followed by APOE genotyping is the method of choice in the diagnosis of dysbetalipoproteinaemia. It is a dyslipidaemia that responds well to hygienic-dietary treatment, although the combination of statin and fenofibrate is often necessary to achieve optimal control. |
Databáze: | OpenAIRE |
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