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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

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
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
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
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
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels.
Miettinen HE, Gylling H, Tenhunen J, Virtamo J, Jauhiainen M, Huttunen JK, Kantola I, Miettinen TA, Kontula K
Arterioscler Thromb Vasc Biol 1998 Apr;18(4):591-8. doi: 10.1161/01.atv.18.4.591. PMID: 9555865

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
Modulation of HDL metabolism by probucol in complete cholesteryl ester transfer protein deficiency.
Noto H, Kawamura M, Hashimoto Y, Satoh H, Hara M, Iso-o N, Togo M, Kimura S, Tsukamoto K
Atherosclerosis 2003 Nov;171(1):131-6. doi: 10.1016/j.atherosclerosis.2003.08.005. PMID: 14642415
Increased carotid artery intima-media thickness in subjects with primary hypoalphalipoproteinemia.
Baldassarre D, Amato M, Pustina L, Tremoli E, Sirtori CR, Calabresi L, Franceschini G
Arterioscler Thromb Vasc Biol 2002 Feb 1;22(2):317-22. doi: 10.1161/hq0202.104848. PMID: 11834535
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
Hyperalphalipoproteinemia in hypercholesterolemic adults and children.
Morrison JA, Khoury P, Laskarzewski P, Gartside P, Moore M, Heiss G, Glueck CJ
Trans Assoc Am Physicians 1980;93:230-43. PMID: 7245576

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
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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