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Hyperlipoproteinemia, type III, due to APOE2

MedGen UID:
1377459
•Concept ID:
C4479659
•
Disease or Syndrome
Synonym: HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2
 
OMIM®: 107741

Professional guidelines

PubMed

Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia.
Satny M, Todorovova V, Altschmiedova T, Hubacek JA, Dlouha L, Lanska V, Soska V, Kyselak O, Freiberger T, Bobak M, Vrablik M
J Clin Lipidol 2024 Mar-Apr;18(2):e230-e237. Epub 2023 Nov 23 doi: 10.1016/j.jacl.2023.11.010. PMID: 38044203
Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Bea AM, Cenarro A, Marco-Bened V, Laclaustra M, Martn C, Ibarretxe D, Pint X, Arrobas T, Vials C, Civeira F, Olmos S
Clin Chem 2023 Feb 1;69(2):140-148. doi: 10.1093/clinchem/hvac213. PMID: 36644927
Apolipoprotein epsilon 2/3 genotype and type III hyperlipoproteinemia among Taiwanese.
Lin HP, Kao JT
Clin Chim Acta 2003 Apr;330(1-2):173-8. doi: 10.1016/s0009-8981(03)00050-0. PMID: 12636937

Recent clinical studies

Etiology

Analysis of early effects of human APOE isoforms on Alzheimer's disease and type III hyperlipoproteinemia pathways using knock-in rat models with humanized APP and APOE.
Yesiltepe M, Yin T, Tambini M, Bao H, Pan M, d'Abramo C, Giliberto L, Han X, D'Adamio L
Cell Commun Signal 2024 Sep 27;22(1):458. doi: 10.1186/s12964-024-01832-2. PMID: 39334477Free PMC Article
APOE gene variants in primary dyslipidemia.
Khalil YA, Rabès JP, Boileau C, Varret M
Atherosclerosis 2021 Jul;328:11-22. Epub 2021 May 23 doi: 10.1016/j.atherosclerosis.2021.05.007. PMID: 34058468
The clinical and laboratory investigation of dysbetalipoproteinemia.
Boot CS, Luvai A, Neely RDG
Crit Rev Clin Lab Sci 2020 Nov;57(7):458-469. Epub 2020 Apr 7 doi: 10.1080/10408363.2020.1745142. PMID: 32255405
Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree.
de Knijff P, van den Maagdenberg AM, Stalenhoef AF, Leuven JA, Demacker PN, Kuyt LP, Frants RR, Havekes LM
J Clin Invest 1991 Aug;88(2):643-55. doi: 10.1172/JCI115349. PMID: 1864973Free PMC Article
Apolipoprotein E polymorphism and atherosclerosis.
Davignon J, Gregg RE, Sing CF
Arteriosclerosis 1988 Jan-Feb;8(1):1-21. doi: 10.1161/01.atv.8.1.1. PMID: 3277611

Diagnosis

Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Bea AM, Cenarro A, Marco-Bened V, Laclaustra M, Martn C, Ibarretxe D, Pint X, Arrobas T, Vials C, Civeira F, Olmos S
Clin Chem 2023 Feb 1;69(2):140-148. doi: 10.1093/clinchem/hvac213. PMID: 36644927
Diagnosis of remnant hyperlipidaemia.
Paquette M, Bernard S, Baass A
Curr Opin Lipidol 2022 Aug 1;33(4):227-230. doi: 10.1097/MOL.0000000000000831. PMID: 35942808
APOE gene variants in primary dyslipidemia.
Khalil YA, Rabès JP, Boileau C, Varret M
Atherosclerosis 2021 Jul;328:11-22. Epub 2021 May 23 doi: 10.1016/j.atherosclerosis.2021.05.007. PMID: 34058468
Dysbetalipoproteinemia and other lipid abnormalities related to apo E.
Cenarro A, Bea AM, Gracia-Rubio I, Civeira F
Clin Investig Arterioscler 2021 May;33 Suppl 2:50-55. doi: 10.1016/j.arteri.2021.01.002. PMID: 34006354
The clinical and laboratory investigation of dysbetalipoproteinemia.
Boot CS, Luvai A, Neely RDG
Crit Rev Clin Lab Sci 2020 Nov;57(7):458-469. Epub 2020 Apr 7 doi: 10.1080/10408363.2020.1745142. PMID: 32255405

Therapy

Contribution of APOE Genetic Variants to Dyslipidemia.
Bea AM, Larrea-Sebal A, Marco-Benedi V, Uribe KB, Galicia-Garcia U, Lamiquiz-Moneo I, Laclaustra M, Moreno-Franco B, Fernandez-Corredoira P, Olmos S, Civeira F, Martin C, Cenarro A
Arterioscler Thromb Vasc Biol 2023 Jun;43(6):1066-1077. Epub 2023 Apr 13 doi: 10.1161/ATVBAHA.123.318977. PMID: 37051929
Triglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia.
Paquette M, Bernard S, Paré G, Baass A
J Clin Lipidol 2020 Jan-Feb;14(1):46-52. Epub 2019 Dec 24 doi: 10.1016/j.jacl.2019.12.006. PMID: 31959563
Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2.
Sullivan PM, Mezdour H, Quarfordt SH, Maeda N
J Clin Invest 1998 Jul 1;102(1):130-5. doi: 10.1172/JCI2673. PMID: 9649566Free PMC Article
Abnormal lipid metabolism and renal disorders.
Saito T
Tohoku J Exp Med 1997 Mar;181(3):321-37. doi: 10.1620/tjem.181.321. PMID: 9163848
Potential role of insulin in the clearance of remnant lipoproteins in dysbetalipoproteinaemia.
Duell PB, Bierman EL
J Intern Med 1991 Jan;229(1):97-101. doi: 10.1111/j.1365-2796.1991.tb00313.x. PMID: 1995770

Prognosis

Contribution of APOE Genetic Variants to Dyslipidemia.
Bea AM, Larrea-Sebal A, Marco-Benedi V, Uribe KB, Galicia-Garcia U, Lamiquiz-Moneo I, Laclaustra M, Moreno-Franco B, Fernandez-Corredoira P, Olmos S, Civeira F, Martin C, Cenarro A
Arterioscler Thromb Vasc Biol 2023 Jun;43(6):1066-1077. Epub 2023 Apr 13 doi: 10.1161/ATVBAHA.123.318977. PMID: 37051929
APOE gene variants in primary dyslipidemia.
Khalil YA, Rabès JP, Boileau C, Varret M
Atherosclerosis 2021 Jul;328:11-22. Epub 2021 May 23 doi: 10.1016/j.atherosclerosis.2021.05.007. PMID: 34058468
A simplified diagnosis algorithm for dysbetalipoproteinemia.
Paquette M, Bernard S, Blank D, Paré G, Baass A
J Clin Lipidol 2020 Jul-Aug;14(4):431-437. Epub 2020 Jun 10 doi: 10.1016/j.jacl.2020.06.004. PMID: 32631794
Triglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia.
Paquette M, Bernard S, Paré G, Baass A
J Clin Lipidol 2020 Jan-Feb;14(1):46-52. Epub 2019 Dec 24 doi: 10.1016/j.jacl.2019.12.006. PMID: 31959563
Glomerular lipid deposition and proteinuria in a patient with familial dysbetalipoproteinaemia.
Balson KR, Niall JF, Best JD
J Intern Med 1996 Sep;240(3):157-9. doi: 10.1046/j.1365-2796.1996.501855000.x. PMID: 8862125

Clinical prediction guides

Analysis of early effects of human APOE isoforms on Alzheimer's disease and type III hyperlipoproteinemia pathways using knock-in rat models with humanized APP and APOE.
Yesiltepe M, Yin T, Tambini M, Bao H, Pan M, d'Abramo C, Giliberto L, Han X, D'Adamio L
Cell Commun Signal 2024 Sep 27;22(1):458. doi: 10.1186/s12964-024-01832-2. PMID: 39334477Free PMC Article
Contribution of APOE Genetic Variants to Dyslipidemia.
Bea AM, Larrea-Sebal A, Marco-Benedi V, Uribe KB, Galicia-Garcia U, Lamiquiz-Moneo I, Laclaustra M, Moreno-Franco B, Fernandez-Corredoira P, Olmos S, Civeira F, Martin C, Cenarro A
Arterioscler Thromb Vasc Biol 2023 Jun;43(6):1066-1077. Epub 2023 Apr 13 doi: 10.1161/ATVBAHA.123.318977. PMID: 37051929
A simplified diagnosis algorithm for dysbetalipoproteinemia.
Paquette M, Bernard S, Blank D, Paré G, Baass A
J Clin Lipidol 2020 Jul-Aug;14(4):431-437. Epub 2020 Jun 10 doi: 10.1016/j.jacl.2020.06.004. PMID: 32631794
The clinical and laboratory investigation of dysbetalipoproteinemia.
Boot CS, Luvai A, Neely RDG
Crit Rev Clin Lab Sci 2020 Nov;57(7):458-469. Epub 2020 Apr 7 doi: 10.1080/10408363.2020.1745142. PMID: 32255405
Apolipoprotein E polymorphism and atherosclerosis.
Davignon J, Gregg RE, Sing CF
Arteriosclerosis 1988 Jan-Feb;8(1):1-21. doi: 10.1161/01.atv.8.1.1. PMID: 3277611

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