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The polygenic natur...
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management
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Hegele, R. A. (author)
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Ginsberg, H. N. (author)
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Chapman, M. J. (author)
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Nordestgaard, B. G. (author)
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Kuivenhoven, J. A. (author)
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Averna, M. (author)
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- Borén, Jan, 1963 (author)
- Gothenburg University,Göteborgs universitet,Center for Cardiovascular and Metabolic Research (CMR)
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Bruckert, E. (author)
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Catapano, A. L. (author)
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Descamps, O. S. (author)
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Hovingh, G. K. (author)
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Humphries, S. E. (author)
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Kovanen, P. T. (author)
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Masana, L. (author)
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Pajukanta, P. (author)
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Parhofer, K. G. (author)
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Raal, F. J. (author)
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Ray, K. K. (author)
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Santos, R. D. (author)
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Stalenhoef, A. F. H. (author)
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Stroes, E. (author)
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Taskinen, M. R. (author)
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Tybjrg-Hansen, A. (author)
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Watts, G. F. (author)
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Wiklund, Olov, 1943 (author)
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(creator_code:org_t)
- Elsevier BV, 2014
- 2014
- English.
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In: Lancet Diabetes & Endocrinology. - : Elsevier BV. - 2213-8587. ; 2:8, s. 655-666
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- DENSITY-LIPOPROTEIN CHOLESTEROL
- ISCHEMIC-HEART-DISEASE
- HOMOZYGOUS
- FAMILIAL HYPERCHOLESTEROLEMIA
- GENOME-WIDE ASSOCIATION
- NONFASTING
- TRIGLYCERIDES
- CARDIOVASCULAR-DISEASE
- PLASMA TRIGLYCERIDES
- REMNANT
- CHOLESTEROL
- GENERAL-POPULATION
- LIPASE DEFICIENCY
- Endocrinology & Metabolism
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Hegele, R. A.
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Ginsberg, H. N.
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Chapman, M. J.
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Nordestgaard, B. ...
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Kuivenhoven, J. ...
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Averna, M.
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show more...
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Borén, Jan, 1963
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Bruckert, E.
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Catapano, A. L.
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Descamps, O. S.
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Hovingh, G. K.
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Humphries, S. E.
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Kovanen, P. T.
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Masana, L.
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Pajukanta, P.
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Parhofer, K. G.
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Raal, F. J.
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Ray, K. K.
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Santos, R. D.
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Stalenhoef, A. F ...
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Stroes, E.
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Taskinen, M. R.
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Tybjrg-Hansen, A ...
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Watts, G. F.
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Wiklund, Olov, 1 ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
- Articles in the publication
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Lancet Diabetes ...
- By the university
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University of Gothenburg