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Apolipoprotein A-I deficiency

MedGen UID:
137983
•Concept ID:
C0342898
•
Disease or Syndrome
Synonym: APOLIPOPROTEIN A-I DEFICIENCY
SNOMED CT: Apolipoprotein A-I deficiency (238095002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
OMIM®: 107680
Orphanet: ORPHA425

Definition

A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). [from ORDO]

Professional guidelines

PubMed

Diagnosis and treatment of high density lipoprotein deficiency.
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF
Prog Cardiovasc Dis 2016 Sep-Oct;59(2):97-106. Epub 2016 Aug 24 doi: 10.1016/j.pcad.2016.08.006. PMID: 27565770Free PMC Article
Re-evaluation of cholesteryl ester transfer protein function in atherosclerosis based upon genetics and pharmacological manipulation.
Yamashita S, Matsuzawa Y
Curr Opin Lipidol 2016 Oct;27(5):459-72. doi: 10.1097/MOL.0000000000000332. PMID: 27454452
Differential diagnosis of familial high density lipoprotein deficiency syndromes.
von Eckardstein A
Atherosclerosis 2006 Jun;186(2):231-9. Epub 2005 Dec 15 doi: 10.1016/j.atherosclerosis.2005.10.033. PMID: 16343506

Recent clinical studies

Etiology

Sidedness of interfacial arginine residues and anti-atherogenicity of apolipoprotein A-I mimetic peptides.
Nayyar G, Mishra VK, Handattu SP, Palgunachari MN, Shin R, McPherson DT, Deivanayagam CCS, Garber DW, Segrest JP, Anantharamaiah GM
J Lipid Res 2012 May;53(5):849-858. Epub 2012 Feb 29 doi: 10.1194/jlr.M019844. PMID: 22377531Free PMC Article
Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD.
Yokota H, Hashimoto Y, Okubo S, Yumoto M, Mashige F, Kawamura M, Kotani K, Usuki Y, Shimada S, Kitamura K, Nakahara K
Atherosclerosis 2002 Jun;162(2):399-407. doi: 10.1016/s0021-9150(01)00724-9. PMID: 11996960
ApoA-I deficiency causes both hypertriglyceridemia and increased atherosclerosis in human apoB transgenic mice.
Voyiaziakis E, Goldberg IJ, Plump AS, Rubin EM, Breslow JL, Huang LS
J Lipid Res 1998 Feb;39(2):313-21. PMID: 9507992
High-density lipoprotein and apolipoprotein A-I deficiency induced by combination therapy with probucol and bezafibrate.
Saku K, Zhang B, Jimi S, Bai H, Hirata K, Sasaki N, Liu R, Arakawa K
Eur J Clin Pharmacol 1995;48(3-4):209-15. doi: 10.1007/BF00198300. PMID: 7589043
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.
Ng DS, Leiter LA, Vezina C, Connelly PW, Hegele RA
J Clin Invest 1994 Jan;93(1):223-9. doi: 10.1172/JCI116949. PMID: 8282791Free PMC Article

Diagnosis

Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report.
Namba H, Narumi M, Susa S, Ohe R, Kato T, Yamakawa M, Yamashita H
BMC Ophthalmol 2017 Feb 8;17(1):11. doi: 10.1186/s12886-017-0404-8. PMID: 28178939Free PMC Article
Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland.
Traynor CA, Tighe D, O'Brien FJ, Leavey SF, Dorman AM, Denton MD, Magee C, Conlon PJ
Nephrology (Carlton) 2013 Aug;18(8):549-54. doi: 10.1111/nep.12108. PMID: 23730806
Approach to the patient with extremely low HDL-cholesterol.
Rader DJ, deGoma EM
J Clin Endocrinol Metab 2012 Oct;97(10):3399-407. doi: 10.1210/jc.2012-2185. PMID: 23043194Free PMC Article
Sidedness of interfacial arginine residues and anti-atherogenicity of apolipoprotein A-I mimetic peptides.
Nayyar G, Mishra VK, Handattu SP, Palgunachari MN, Shin R, McPherson DT, Deivanayagam CCS, Garber DW, Segrest JP, Anantharamaiah GM
J Lipid Res 2012 May;53(5):849-858. Epub 2012 Feb 29 doi: 10.1194/jlr.M019844. PMID: 22377531Free PMC Article
Acquired hypolipoproteinemia.
De Buyzere M, Delanghe J, Labeur C, Noens L, Benoit Y, Baert J, Rosseneu M
Clin Chem 1992 May;38(5):776-81. PMID: 1582035

Therapy

Effects of native and myeloperoxidase-modified apolipoprotein a-I on reverse cholesterol transport and atherosclerosis in mice.
Hewing B, Parathath S, Barrett T, Chung WK, Astudillo YM, Hamada T, Ramkhelawon B, Tallant TC, Yusufishaq MS, Didonato JA, Huang Y, Buffa J, Berisha SZ, Smith JD, Hazen SL, Fisher EA
Arterioscler Thromb Vasc Biol 2014 Apr;34(4):779-89. Epub 2014 Jan 9 doi: 10.1161/ATVBAHA.113.303044. PMID: 24407029Free PMC Article
Sidedness of interfacial arginine residues and anti-atherogenicity of apolipoprotein A-I mimetic peptides.
Nayyar G, Mishra VK, Handattu SP, Palgunachari MN, Shin R, McPherson DT, Deivanayagam CCS, Garber DW, Segrest JP, Anantharamaiah GM
J Lipid Res 2012 May;53(5):849-858. Epub 2012 Feb 29 doi: 10.1194/jlr.M019844. PMID: 22377531Free PMC Article
Characterization of a new mouse model for human apolipoprotein A-I/C-III/A-IV deficiency.
Mezdour H, Larigauderie G, Castro G, Torpier G, Fruchart J, Nowak M, Fruchart JC, Rouis M, Maeda N
J Lipid Res 2006 May;47(5):912-20. Epub 2006 Feb 23 doi: 10.1194/jlr.M500414-JLR200. PMID: 16497661
ApoA-I deficiency causes both hypertriglyceridemia and increased atherosclerosis in human apoB transgenic mice.
Voyiaziakis E, Goldberg IJ, Plump AS, Rubin EM, Breslow JL, Huang LS
J Lipid Res 1998 Feb;39(2):313-21. PMID: 9507992
High-density lipoprotein and apolipoprotein A-I deficiency induced by combination therapy with probucol and bezafibrate.
Saku K, Zhang B, Jimi S, Bai H, Hirata K, Sasaki N, Liu R, Arakawa K
Eur J Clin Pharmacol 1995;48(3-4):209-15. doi: 10.1007/BF00198300. PMID: 7589043

Prognosis

Defective functionality of small, dense HDL3 subpopulations in ST segment elevation myocardial infarction: Relevance of enrichment in lysophosphatidylcholine, phosphatidic acid and serum amyloid A.
Rached F, Lhomme M, Camont L, Gomes F, Dauteuille C, Robillard P, Santos RD, Lesnik P, Serrano CV Jr, Chapman MJ, Kontush A
Biochim Biophys Acta 2015 Sep;1851(9):1254-61. Epub 2015 May 30 doi: 10.1016/j.bbalip.2015.05.007. PMID: 26037829
Changes in HDL-associated apolipoproteins relate to mortality in human sepsis and correlate to monocyte and platelet activation.
Barlage S, Gnewuch C, Liebisch G, Wolf Z, Audebert FX, Glück T, Fröhlich D, Krämer BK, Rothe G, Schmitz G
Intensive Care Med 2009 Nov;35(11):1877-85. Epub 2009 Aug 8 doi: 10.1007/s00134-009-1609-y. PMID: 19669126
A shot of good cholesterol: synthetic HDL, a new intervention for atherosclerosis.
Dudley-Brown S
J Cardiovasc Nurs 2004 Nov-Dec;19(6):421-4. doi: 10.1097/00005082-200411000-00015. PMID: 15529065
Hypoalphalipoproteinemia (low high density lipoprotein) as a risk factor for coronary heart disease.
Vega GL, Grundy SM
Curr Opin Lipidol 1996 Aug;7(4):209-16. doi: 10.1097/00041433-199608000-00007. PMID: 8883496

Clinical prediction guides

Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency.
Gomaraschi M, Ossoli A, Castelnuovo S, Simonelli S, Pavanello C, Balzarotti G, Arca M, Di Costanzo A, Sampietro T, Vaudo G, Baldassarre D, Veglia F, Franceschini G, Calabresi L
J Lipid Res 2017 May;58(5):994-1001. Epub 2017 Mar 28 doi: 10.1194/jlr.P072371. PMID: 28351888Free PMC Article
Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland.
Traynor CA, Tighe D, O'Brien FJ, Leavey SF, Dorman AM, Denton MD, Magee C, Conlon PJ
Nephrology (Carlton) 2013 Aug;18(8):549-54. doi: 10.1111/nep.12108. PMID: 23730806
ApoA-I deficiency causes both hypertriglyceridemia and increased atherosclerosis in human apoB transgenic mice.
Voyiaziakis E, Goldberg IJ, Plump AS, Rubin EM, Breslow JL, Huang LS
J Lipid Res 1998 Feb;39(2):313-21. PMID: 9507992
Apolipoprotein A-I deficiency. Biochemical and metabolic characteristics.
Ng DS, Vezina C, Wolever TS, Kuksis A, Hegele RA, Connelly PW
Arterioscler Thromb Vasc Biol 1995 Dec;15(12):2157-64. doi: 10.1161/01.atv.15.12.2157. PMID: 7489237
A plasma lipoprotein containing only apolipoprotein E and with gamma mobility on electrophoresis releases cholesterol from cells.
Huang Y, von Eckardstein A, Wu S, Maeda N, Assmann G
Proc Natl Acad Sci U S A 1994 Mar 1;91(5):1834-8. doi: 10.1073/pnas.91.5.1834. PMID: 8127890Free PMC Article

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