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Hyperalphalipoproteinemia

MedGen UID:
87465
•Concept ID:
C0342883
•
Disease or Syndrome
Synonym: High blood hdl level
SNOMED CT: Hyperalphalipoproteinemia (238080004)
 
Monarch Initiative: MONDO:0015903
Orphanet: ORPHA181428

Definition

An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. [from NCI]

Professional guidelines

PubMed

Patterns of serum lipids derangements and cardiovascular risk assessment in patients with primary biliary cholangitis.
Loaeza-Del Castillo AM, Gaytán-Santillán A, López-Tello A, Merit MV, Milke-García MDP, Flores-Rodríguez J, Alvirde-García U
Ann Hepatol 2019 Nov-Dec;18(6):879-882. Epub 2019 Aug 22 doi: 10.1016/j.aohep.2019.07.006. PMID: 31506216

Recent clinical studies

Etiology

ANGPTL3 and ANGPTL8 in Thai subjects with hyperalphalipoproteinemia and severe hypertriglyceridemia.
Kaewkrasaesin C, Chatchomchuan W, Muanpetch S, Khovidhunkit W
J Clin Lipidol 2021 Sep-Oct;15(5):752-759. Epub 2021 Sep 1 doi: 10.1016/j.jacl.2021.08.059. PMID: 34535418
Atherosclerotic cardiovascular disease in hyperalphalipoproteinemia due to LIPG variants.
Cole J, Blackhurst DM, Solomon GAE, Ratanjee BD, Benjamin R, Marais AD
J Clin Lipidol 2021 Jan-Feb;15(1):142-150.e2. Epub 2020 Dec 24 doi: 10.1016/j.jacl.2020.12.007. PMID: 33414088
Rare Diseases Related with Lipoprotein Metabolism.
Zhou H, Gong Y, Wu Q, Ye X, Yu B, Lu C, Jiang W, Ye J, Fu Z
Adv Exp Med Biol 2020;1276:171-188. doi: 10.1007/978-981-15-6082-8_11. PMID: 32705600
Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection.
Oates CP, Koenig D, Rhyne J, Bogush N, O'Connell J, Mitchell BD, Miller M
J Clin Lipidol 2018 Jan-Feb;12(1):110-115. Epub 2017 Nov 21 doi: 10.1016/j.jacl.2017.10.021. PMID: 29198934Free PMC Article
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia.
Khovidhunkit W, Chartyingcharoen P, Siriwong S, Limumpornpetch P, Plengpanich W
Am J Cardiol 2012 Jul 1;110(1):62-6. Epub 2012 Mar 29 doi: 10.1016/j.amjcard.2012.02.052. PMID: 22464213

Diagnosis

Development and Clinical Application of an Enzyme-Linked Immunosorbent Assay for Oxidized High-Density Lipoprotein.
Okada T, Sumida M, Ohama T, Katayama Y, Saga A, Inui H, Kanno K, Masuda D, Koseki M, Nishida M, Sakata Y, Yamashita S
J Atheroscler Thromb 2021 Jul 1;28(7):703-715. Epub 2020 Oct 17 doi: 10.5551/jat.56887. PMID: 33028763Free PMC Article
Paradoxical Hypercholesterolemia in an Otherwise Healthy Adult Man.
Mcpherson PA
Lab Med 2020 Mar 10;51(2):217-220. doi: 10.1093/labmed/lmz036. PMID: 31414129
The biochemical and genetic diagnosis of lipid disorders.
Schaefer EJ, Geller AS, Endress G
Curr Opin Lipidol 2019 Apr;30(2):56-62. doi: 10.1097/MOL.0000000000000590. PMID: 30720493
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.
Plengpanich W, Tongkobpetch S, Shotelersuk V, Le Goff W, Khovidhunkit W
Clin Chim Acta 2013 Feb 1;416:92-5. Epub 2012 Dec 5 doi: 10.1016/j.cca.2012.11.024. PMID: 23219720
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia.
West M, Greason E, Kolmakova A, Jahangiri A, Asztalos B, Pollin TI, Rodriguez A
J Clin Endocrinol Metab 2009 Apr;94(4):1451-7. Epub 2009 Jan 21 doi: 10.1210/jc.2008-1223. PMID: 19158204Free PMC Article

Therapy

Clinical characterization and detection of subclinical atherosclerosis in subjects with extreme hyperalphalipoproteinemia.
Espíldora-Hernández J, Díaz-Antonio T, Olmedo-Llanes J, Zarzuela León J, Rioja J, Valdivielso P, Sánchez-Chaparro MÁ, Ariza MJ
Clin Investig Arterioscler 2024 Nov-Dec;36(6):325-332. Epub 2024 May 2 doi: 10.1016/j.arteri.2024.03.005. PMID: 38702206
Development and Clinical Application of an Enzyme-Linked Immunosorbent Assay for Oxidized High-Density Lipoprotein.
Okada T, Sumida M, Ohama T, Katayama Y, Saga A, Inui H, Kanno K, Masuda D, Koseki M, Nishida M, Sakata Y, Yamashita S
J Atheroscler Thromb 2021 Jul 1;28(7):703-715. Epub 2020 Oct 17 doi: 10.5551/jat.56887. PMID: 33028763Free PMC Article
Rare Diseases Related with Lipoprotein Metabolism.
Zhou H, Gong Y, Wu Q, Ye X, Yu B, Lu C, Jiang W, Ye J, Fu Z
Adv Exp Med Biol 2020;1276:171-188. doi: 10.1007/978-981-15-6082-8_11. PMID: 32705600
High density lipoproteins, reverse transport of cholesterol, and coronary artery disease. Insights from mutations.
Assmann G, von Eckardstein A, Funke H
Circulation 1993 Apr;87(4 Suppl):III28-34. PMID: 8462178
Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia.
Kuusi T, Ehnholm C, Viikari J, Härkönen R, Vartiainen E, Puska P, Taskinen MR
J Lipid Res 1989 Aug;30(8):1117-26. PMID: 2504859

Prognosis

The biochemical and genetic diagnosis of lipid disorders.
Schaefer EJ, Geller AS, Endress G
Curr Opin Lipidol 2019 Apr;30(2):56-62. doi: 10.1097/MOL.0000000000000590. PMID: 30720493
Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection.
Oates CP, Koenig D, Rhyne J, Bogush N, O'Connell J, Mitchell BD, Miller M
J Clin Lipidol 2018 Jan-Feb;12(1):110-115. Epub 2017 Nov 21 doi: 10.1016/j.jacl.2017.10.021. PMID: 29198934Free PMC Article
Paradoxical coronary artery disease in humans with hyperalphalipoproteinemia is associated with distinct differences in the high-density lipoprotein phosphosphingolipidome.
Hancock-Cerutti W, Lhomme M, Dauteuille C, Lecocq S, Chapman MJ, Rader DJ, Kontush A, Cuchel M
J Clin Lipidol 2017 Sep-Oct;11(5):1192-1200.e3. Epub 2017 Jul 8 doi: 10.1016/j.jacl.2017.06.018. PMID: 28826666Free PMC Article
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia.
Engler MB, Pullinger CR, Malloy MJ, Natanzon Y, Kulkarni MV, Song J, Eng C, Huuskonen J, Rivera C, Poon A, Bensley M, Sehnert A, Zellner C, Kane J, Aouizerat BE
Metabolism 2008 Dec;57(12):1719-24. doi: 10.1016/j.metabol.2008.07.031. PMID: 19013296Free PMC Article
Familial hyperalphalipoproteinemia.
Glueck CJ, Fallat RW, Millett F, Steiner PM
Arch Intern Med 1975 Aug;135(8):1025-8. PMID: 168823

Clinical prediction guides

Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection.
Oates CP, Koenig D, Rhyne J, Bogush N, O'Connell J, Mitchell BD, Miller M
J Clin Lipidol 2018 Jan-Feb;12(1):110-115. Epub 2017 Nov 21 doi: 10.1016/j.jacl.2017.10.021. PMID: 29198934Free PMC Article
Paradoxical coronary artery disease in humans with hyperalphalipoproteinemia is associated with distinct differences in the high-density lipoprotein phosphosphingolipidome.
Hancock-Cerutti W, Lhomme M, Dauteuille C, Lecocq S, Chapman MJ, Rader DJ, Kontush A, Cuchel M
J Clin Lipidol 2017 Sep-Oct;11(5):1192-1200.e3. Epub 2017 Jul 8 doi: 10.1016/j.jacl.2017.06.018. PMID: 28826666Free PMC Article
Apolipoprotein C-III and hepatic triglyceride-rich lipoprotein production.
Yao Z, Wang Y
Curr Opin Lipidol 2012 Jun;23(3):206-212. doi: 10.1097/MOL.0b013e328352dc70. PMID: 22510806
Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia.
Oka T, Yamashita S, Kujiraoka T, Ito M, Nagano M, Sagehashi Y, Egashira T, Nanjee MN, Hirano K, Miller NE, Matsuzawa Y, Hattori H
J Lipid Res 2002 Aug;43(8):1236-43. PMID: 12177167
Familial hyperalphalipoproteinemia.
Glueck CJ, Fallat RW, Millett F, Steiner PM
Arch Intern Med 1975 Aug;135(8):1025-8. PMID: 168823

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