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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
Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.
Vigna GB, Satta E, Bernini F, Boarini S, Bosi C, Giusto L, Pinotti E, Tarugi P, Vanini A, Volpato S, Zimetti F, Zuliani G, Favari E
Nutr Metab Cardiovasc Dis 2014 Jul;24(7):777-83. Epub 2014 Mar 1 doi: 10.1016/j.numecd.2014.02.010. PMID: 24680225
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
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
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
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
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

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
eNOS activation by HDL is impaired in genetic CETP deficiency.
Gomaraschi M, Ossoli A, Pozzi S, Nilsson P, Cefalù AB, Averna M, Kuivenhoven JA, Hovingh GK, Veglia F, Franceschini G, Calabresi L
PLoS One 2014;9(5):e95925. Epub 2014 May 15 doi: 10.1371/journal.pone.0095925. PMID: 24830642Free PMC Article
Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects.
Ohtani R, Inazu A, Noji Y, Wakasugi T, Miwa K, Tada H, Kawashiri MA, Noguchi T, Nohara A, Kobayashi J, Koizumi J, Yamagishi M, Mabuchi H
Clin Chim Acta 2012 Mar 22;413(5-6):537-43. Epub 2011 Nov 19 doi: 10.1016/j.cca.2011.11.010. PMID: 22122993
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
Familial hyperalphalipoproteinemia.
Glueck CJ, Fallat RW, Millett F, Steiner PM
Arch Intern Med 1975 Aug;135(8):1025-8. PMID: 168823

Clinical prediction guides

eNOS activation by HDL is impaired in genetic CETP deficiency.
Gomaraschi M, Ossoli A, Pozzi S, Nilsson P, Cefalù AB, Averna M, Kuivenhoven JA, Hovingh GK, Veglia F, Franceschini G, Calabresi L
PLoS One 2014;9(5):e95925. Epub 2014 May 15 doi: 10.1371/journal.pone.0095925. PMID: 24830642Free PMC Article
Clinical characteristics of double heterozygotes with familial hypercholesterolemia and cholesteryl ester transfer protein deficiency.
Haraki T, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H
Atherosclerosis 1997 Jul 25;132(2):229-36. doi: 10.1016/s0021-9150(97)00093-2. PMID: 9242969
Plasma lipoproteins in familial hepatic lipase deficiency.
Connelly PW, Maguire GF, Lee M, Little JA
Arteriosclerosis 1990 Jan-Feb;10(1):40-8. doi: 10.1161/01.atv.10.1.40. PMID: 2297346
Multiple symmetric lipomatosis: an updated clinical report.
Enzi G
Medicine (Baltimore) 1984 Jan;63(1):56-64. doi: 10.1097/00005792-198401000-00004. PMID: 6318013
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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