The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management
Identifieur interne : 004435 ( Main/Exploration ); précédent : 004434; suivant : 004436The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management
Auteurs : Robert A. Hegele ; Henry N. Ginsberg ; M John Chapman ; B Rge G. Nordestgaard ; Jan Albert Kuivenhoven ; Maurizio Averna ; Jan Borén ; Eric Bruckert ; Alberico L. Catapano ; Olivier S. Descamps ; G Kees Hovingh ; Steve E. Humphries ; Petri T. Kovanen ; Luis Masana ; P Ivi Pajukanta ; Klaus G. Parhofer ; Frederick J. Raal ; Kausik K. Ray ; Raul D. Santos ; Anton F H. Stalenhoef ; Erik Stroes ; Marja-Riitta Taskinen ; Anne Tybj Rg-Hansen ; Gerald F. Watts ; Olov WiklundSource :
- The lancet. Diabetes & endocrinology [ 2213-8587 ] ; 2013.
Descripteurs français
- KwdFr :
- Animaux, Association thérapeutique, Guides de bonnes pratiques cliniques comme sujet, Humains, Hypertriglycéridémie (), Hypertriglycéridémie (diagnostic), Hypertriglycéridémie (génétique), Hypertriglycéridémie (étiologie), Hérédité multifactorielle, Marqueurs biologiques (sang), Mode de vie, Promotion de la santé, Prédisposition génétique à une maladie, Triglycéride (sang).
- MESH :
- diagnostic : Hypertriglycéridémie.
- génétique : Hypertriglycéridémie.
- sang : Marqueurs biologiques, Triglycéride.
- étiologie : Hypertriglycéridémie.
- Animaux, Association thérapeutique, Guides de bonnes pratiques cliniques comme sujet, Humains, Hypertriglycéridémie, Hérédité multifactorielle, Mode de vie, Promotion de la santé, Prédisposition génétique à une maladie.
English descriptors
- KwdEn :
- Animals, Biomarkers (blood), Combined Modality Therapy, Genetic Predisposition to Disease, Health Promotion, Humans, Hypertriglyceridemia (diagnosis), Hypertriglyceridemia (etiology), Hypertriglyceridemia (genetics), Hypertriglyceridemia (therapy), Life Style, Multifactorial Inheritance, Practice Guidelines as Topic, Triglycerides (blood).
- MESH :
- chemical , blood : Biomarkers, Triglycerides.
- diagnosis : Hypertriglyceridemia.
- etiology : Hypertriglyceridemia.
- genetics : Hypertriglyceridemia.
- therapy : Hypertriglyceridemia.
- Animals, Combined Modality Therapy, Genetic Predisposition to Disease, Health Promotion, Humans, Life Style, Multifactorial Inheritance, Practice Guidelines as Topic.
Abstract
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.
Url:
DOI: 10.1016/S2213-8587(13)70191-8
PubMed: 24731657
PubMed Central: 4201123
Affiliations:
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Le document en format XML
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Hegele</name></author><author><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name></author><author><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name></author><author><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G" last="Nordestgaard">B Rge G. Nordestgaard</name></author><author><name sortKey="Kuivenhoven, Jan Albert" sort="Kuivenhoven, Jan Albert" uniqKey="Kuivenhoven J" first="Jan Albert" last="Kuivenhoven">Jan Albert Kuivenhoven</name></author><author><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name></author><author><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name></author><author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name></author><author><name sortKey="Catapano, Alberico L" sort="Catapano, Alberico L" uniqKey="Catapano A" first="Alberico L" last="Catapano">Alberico L. Catapano</name></author><author><name sortKey="Descamps, Olivier S" sort="Descamps, Olivier S" uniqKey="Descamps O" first="Olivier S" last="Descamps">Olivier S. Descamps</name></author><author><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name></author><author><name sortKey="Humphries, Steve E" sort="Humphries, Steve E" uniqKey="Humphries S" first="Steve E" last="Humphries">Steve E. Humphries</name></author><author><name sortKey="Kovanen, Petri T" sort="Kovanen, Petri T" uniqKey="Kovanen P" first="Petri T" last="Kovanen">Petri T. Kovanen</name></author><author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name></author><author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name></author><author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name></author><author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name></author><author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name></author><author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name></author><author><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name></author><author><name sortKey="Stroes, Erik" sort="Stroes, Erik" uniqKey="Stroes E" first="Erik" last="Stroes">Erik Stroes</name></author><author><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name></author><author><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name></author><author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name></author><author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name></author></analytic><series><title level="j">The lancet. Diabetes & endocrinology</title><idno type="ISSN">2213-8587</idno><idno type="eISSN">2213-8595</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Biomarkers (blood)</term><term>Combined Modality Therapy</term><term>Genetic Predisposition to Disease</term><term>Health Promotion</term><term>Humans</term><term>Hypertriglyceridemia (diagnosis)</term><term>Hypertriglyceridemia (etiology)</term><term>Hypertriglyceridemia (genetics)</term><term>Hypertriglyceridemia (therapy)</term><term>Life Style</term><term>Multifactorial Inheritance</term><term>Practice Guidelines as Topic</term><term>Triglycerides (blood)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Association thérapeutique</term><term>Guides de bonnes pratiques cliniques comme sujet</term><term>Humains</term><term>Hypertriglycéridémie ()</term><term>Hypertriglycéridémie (diagnostic)</term><term>Hypertriglycéridémie (génétique)</term><term>Hypertriglycéridémie (étiologie)</term><term>Hérédité multifactorielle</term><term>Marqueurs biologiques (sang)</term><term>Mode de vie</term><term>Promotion de la santé</term><term>Prédisposition génétique à une maladie</term><term>Triglycéride (sang)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Biomarkers</term><term>Triglycerides</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hypertriglyceridemia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Hypertriglycéridémie</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hypertriglyceridemia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hypertriglyceridemia</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hypertriglycéridémie</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Marqueurs biologiques</term><term>Triglycéride</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Hypertriglyceridemia</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Hypertriglycéridémie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Combined Modality Therapy</term><term>Genetic Predisposition to Disease</term><term>Health Promotion</term><term>Humans</term><term>Life Style</term><term>Multifactorial Inheritance</term><term>Practice Guidelines as Topic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Association thérapeutique</term><term>Guides de bonnes pratiques cliniques comme sujet</term><term>Humains</term><term>Hypertriglycéridémie</term><term>Hérédité multifactorielle</term><term>Mode de vie</term><term>Promotion de la santé</term><term>Prédisposition génétique à une maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">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.</p></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name><name sortKey="Catapano, Alberico L" sort="Catapano, Alberico L" uniqKey="Catapano A" first="Alberico L" last="Catapano">Alberico L. Catapano</name><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name><name sortKey="Descamps, Olivier S" sort="Descamps, Olivier S" uniqKey="Descamps O" first="Olivier S" last="Descamps">Olivier S. Descamps</name><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name><name sortKey="Hegele, Robert A" sort="Hegele, Robert A" uniqKey="Hegele R" first="Robert A" last="Hegele">Robert A. Hegele</name><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name><name sortKey="Humphries, Steve E" sort="Humphries, Steve E" uniqKey="Humphries S" first="Steve E" last="Humphries">Steve E. Humphries</name><name sortKey="Kovanen, Petri T" sort="Kovanen, Petri T" uniqKey="Kovanen P" first="Petri T" last="Kovanen">Petri T. Kovanen</name><name sortKey="Kuivenhoven, Jan Albert" sort="Kuivenhoven, Jan Albert" uniqKey="Kuivenhoven J" first="Jan Albert" last="Kuivenhoven">Jan Albert Kuivenhoven</name><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G" last="Nordestgaard">B Rge G. Nordestgaard</name><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name><name sortKey="Stroes, Erik" sort="Stroes, Erik" uniqKey="Stroes E" first="Erik" last="Stroes">Erik Stroes</name><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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