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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
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
The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease.
Rhyne J, Ryan MJ, White C, Chimonas T, Miller M
J Mol Med (Berl) 2006 Aug;84(8):647-50. Epub 2006 Jul 20 doi: 10.1007/s00109-006-0070-4. PMID: 16855848
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
Hyper-alpha-lipoproteinemia and hypo-beta-lipoproteinemia are not markers for a high life expectancy. Serum lipid and lipoprotein findings in 103 randomly selected nonagenarians.
Heckers H, Burkard W, Schmahl FW, Fuhrmann W, Platt D
Gerontology 1982 May-Jun;28(3):176-202. doi: 10.1159/000212531. PMID: 6954123

Diagnosis

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
Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia.
Canizales-Quinteros S, Aguilar-Salinas CA, Reyes-Rodríguez E, Riba L, Rodríguez-Torres M, Ramírez-Jiménez S, Huertas-Vázquez A, Fragoso-Ontiveros V, Zentella-Dehesa A, Ventura-Gallegos JL, Vega-Hernández G, López-Estrada A, Aurón-Gómez M, Gómez-Pérez F, Rull J, Cox NJ, Bell GI, Tusié-Luna MT
Circ Res 2003 Mar 21;92(5):569-76. Epub 2003 Feb 27 doi: 10.1161/01.RES.0000064174.69165.66. PMID: 12609970
Neonatal familial hyperalphalipoproteinemia.
Glueck CJ, Gartside PM, Tsang RC, Mellies MJ, Steiner PM
Metabolism 1977 May;26(5):469-72. doi: 10.1016/0026-0495(77)90089-0. PMID: 191726

Therapy

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
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
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
Hyper-alpha-lipoproteinemia and hypo-beta-lipoproteinemia are not markers for a high life expectancy. Serum lipid and lipoprotein findings in 103 randomly selected nonagenarians.
Heckers H, Burkard W, Schmahl FW, Fuhrmann W, Platt D
Gerontology 1982 May-Jun;28(3):176-202. doi: 10.1159/000212531. PMID: 6954123

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
Prediction of the influences of missense mutations on cholesteryl ester transfer protein structure.
Dergunov AD
Arch Biochem Biophys 2014 Dec 15;564:67-73. Epub 2014 Sep 6 doi: 10.1016/j.abb.2014.08.018. PMID: 25201589
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
The protective role of high-density lipoproteins in atherosclerosis.
Mingpeng S, Zongli W
Exp Gerontol 1999 Jul;34(4):539-48. doi: 10.1016/s0531-5565(99)00034-0. PMID: 10817809
Familial hyperalphalipoproteinemia.
Glueck CJ, Fallat RW, Millett F, Steiner PM
Arch Intern Med 1975 Aug;135(8):1025-8. PMID: 168823

Clinical prediction guides

Prediction of the influences of missense mutations on cholesteryl ester transfer protein structure.
Dergunov AD
Arch Biochem Biophys 2014 Dec 15;564:67-73. Epub 2014 Sep 6 doi: 10.1016/j.abb.2014.08.018. PMID: 25201589
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
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
The protective role of high-density lipoproteins in atherosclerosis.
Mingpeng S, Zongli W
Exp Gerontol 1999 Jul;34(4):539-48. doi: 10.1016/s0531-5565(99)00034-0. PMID: 10817809
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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