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Hyperalphalipoproteinemia 1(HALP1)

MedGen UID:
460812
•Concept ID:
C3149462
•
Disease or Syndrome
Synonyms: CETP DEFICIENCY; CETP-Related Hyperalphalipoproteinemia; HALP1
 
Gene (location): CETP (16q13)
 
OMIM®: 143470

Clinical features

From HPO
Increased HDL cholesterol concentration
MedGen UID:
1636134
•Concept ID:
C4551591
•
Finding
An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
See: Feature record | Search on this feature

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

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
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
Inherited disorders of HDL metabolism and atherosclerosis.
Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ
Curr Opin Lipidol 2005 Apr;16(2):139-45. doi: 10.1097/01.mol.0000162318.47172.ef. PMID: 15767853
ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice.
Vaisman BL, Lambert G, Amar M, Joyce C, Ito T, Shamburek RD, Cain WJ, Fruchart-Najib J, Neufeld ED, Remaley AT, Brewer HB Jr, Santamarina-Fojo S
J Clin Invest 2001 Jul;108(2):303-9. doi: 10.1172/JCI12517. PMID: 11457883Free PMC Article

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
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
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
Extremely elevated HDL-cholesterol levels are not associated with increased carotid intima-media thickness: data from ELSA Brasil.
Laurinavicius AG, Santos IS, Santos RD, Bensenor IM, Conceição RD, Lotufo PA
J Clin Lipidol 2016 Jul-Aug;10(4):898-904.e1. Epub 2016 Mar 21 doi: 10.1016/j.jacl.2016.03.007. PMID: 27578121
Limitations of a Cardiac Risk (QRISK2) Calculator in Patients with High Density Lipoprotein (HDL).
Minhas JS, Patel P, Gupta PK
High Blood Press Cardiovasc Prev 2016 Mar;23(1):47-50. Epub 2016 Feb 23 doi: 10.1007/s40292-016-0131-x. PMID: 26905417

Therapy

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Nordestgaard LT, Christoffersen M, Lauridsen BK, Afzal S, Nordestgaard BG, Frikke-Schmidt R, Tybjærg-Hansen A
JAMA Cardiol 2022 Jan 1;7(1):55-64. doi: 10.1001/jamacardio.2021.3728. PMID: 34613338Free PMC Article
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
Shotgun proteomic analysis reveals proteome alterations in HDL of patients with cholesteryl ester transfer protein deficiency.
Okada T, Ohama T, Takafuji K, Kanno K, Matsuda H, Sairyo M, Zhu Y, Saga A, Kobayashi T, Masuda D, Koseki M, Nishida M, Sakata Y, Yamashita S
J Clin Lipidol 2019 Mar-Apr;13(2):317-325. Epub 2019 Jan 11 doi: 10.1016/j.jacl.2019.01.002. PMID: 30745272
A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia.
Jap TS, Wu YC, Tso YC, Chiu CY
Metabolism 2002 Mar;51(3):394-7. doi: 10.1053/meta.2002.30527. PMID: 11887180
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

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Nordestgaard LT, Christoffersen M, Lauridsen BK, Afzal S, Nordestgaard BG, Frikke-Schmidt R, Tybjærg-Hansen A
JAMA Cardiol 2022 Jan 1;7(1):55-64. doi: 10.1001/jamacardio.2021.3728. PMID: 34613338Free PMC Article
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
Limitations of a Cardiac Risk (QRISK2) Calculator in Patients with High Density Lipoprotein (HDL).
Minhas JS, Patel P, Gupta PK
High Blood Press Cardiovasc Prev 2016 Mar;23(1):47-50. Epub 2016 Feb 23 doi: 10.1007/s40292-016-0131-x. PMID: 26905417
Familial hyperalphalipoproteinemia.
Glueck CJ, Fallat RW, Millett F, Steiner PM
Arch Intern Med 1975 Aug;135(8):1025-8. PMID: 168823

Clinical prediction guides

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Nordestgaard LT, Christoffersen M, Lauridsen BK, Afzal S, Nordestgaard BG, Frikke-Schmidt R, Tybjærg-Hansen A
JAMA Cardiol 2022 Jan 1;7(1):55-64. doi: 10.1001/jamacardio.2021.3728. PMID: 34613338Free PMC Article
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
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
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

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