The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management
| Autor: | Hegele, R.A., Ginsberg, H.N., Chapman, M.J., Nordestgaard, B.G., Kuivenhoven, J.A., Averna, M., Boren, J., Bruckert, E., Catapano, A.L., Descamps, O.S., Hovingh, G.K., Humphries, S.E., Kovanen, P.T., Masana, L., Pajukanta, P., Parhofer, K.G., Raal, F.J., Ray, K.K., Santos, R.D., Stalenhoef, A.F., Stroes, E., Taskinen, M.R., Tybjaerg-Hansen, A., Watts, G.F., Wiklund, O. |
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| Přispěvatelé: | Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O, on behalf of the European Atherosclerosis Society Consensus Panel. |
| Rok vydání: | 2014 |
| Předmět: |
Multifactorial Inheritance
Settore MED/09 - Medicina Interna Endocrinology Diabetes and Metabolism Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] Genome-wide association study Disease 030204 cardiovascular system & hematology ISCHEMIC-HEART-DISEASE Bioinformatics hypertriglyceridaemia 0302 clinical medicine Endocrinology GENERAL-POPULATION Hypertriglyceridemia treatment medicine.diagnostic_test REMNANT CHOLESTEROL Combined Modality Therapy 3. Good health LIPASE DEFICIENCY diagnosi PLASMA TRIGLYCERIDES DENSITY-LIPOPROTEIN CHOLESTEROL CARDIOVASCULAR-DISEASE Practice Guidelines as Topic Biomarker (medicine) medicine.medical_specialty 030209 endocrinology & metabolism Health Promotion Article 03 medical and health sciences Pharmacotherapy Internal medicine Internal Medicine medicine Animals Humans HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Genetic Predisposition to Disease Allele GENOME-WIDE ASSOCIATION Life Style diagnosis Triglycerides Genetic testing business.industry nutritional and metabolic diseases medicine.disease NONFASTING TRIGLYCERIDES business Biomarkers |
| Zdroj: | Lancet Diabetes & Endocrinology, 2, 655-666 Lancet Diabetes & Endocrinology, 2, 8, pp. 655-666 |
| ISSN: | 2213-8595 2213-8587 |
| Popis: | Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk. |
| Databáze: | OpenAIRE |
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