U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.
Cefalù AB, Noto D, Magnolo L, Pinotti E, Gomaraschi M, Martini S, Vigna GB, Calabresi L, Tarugi P, Averna MR
Atherosclerosis 2009 May;204(1):202-7. Epub 2008 Sep 4 doi: 10.1016/j.atherosclerosis.2008.08.031. PMID: 18926541
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
Hyperalphalipoproteinemia and prostaglandin I2 stability.
Pirich C, Efthimiou Y, O'Grady J, Sinzinger H
Thromb Res 1997 Oct 1;88(1):41-9. doi: 10.1016/s0049-3848(97)00189-8. PMID: 9336872

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
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

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
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.
Cefalù AB, Noto D, Magnolo L, Pinotti E, Gomaraschi M, Martini S, Vigna GB, Calabresi L, Tarugi P, Averna MR
Atherosclerosis 2009 May;204(1):202-7. Epub 2008 Sep 4 doi: 10.1016/j.atherosclerosis.2008.08.031. PMID: 18926541
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
Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia.
El Khoury P, Plengpanich W, Frisdal E, Le Goff W, Khovidhunkit W, Guerin M
Atherosclerosis 2014 May;234(1):193-9. Epub 2014 Mar 12 doi: 10.1016/j.atherosclerosis.2014.02.032. PMID: 24674903
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.
Cefalù AB, Noto D, Magnolo L, Pinotti E, Gomaraschi M, Martini S, Vigna GB, Calabresi L, Tarugi P, Averna MR
Atherosclerosis 2009 May;204(1):202-7. Epub 2008 Sep 4 doi: 10.1016/j.atherosclerosis.2008.08.031. PMID: 18926541
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...