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Hypoalphalipoproteinemia, primary, 1

MedGen UID:
1684828
Concept ID:
C5231558
Disease or Syndrome
Synonyms: ABCA1-Associated Familial High Density Lipoprotein Deficiency; ABCA1-Related Familial High Density Lipoprotein Deficiency
 
Gene (location): ABCA1 (9q31.1)
 
Monarch Initiative: MONDO:0011393
OMIM®: 604091

Definition

Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. [from MONDO]

Clinical features

From HPO
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Premature coronary artery atherosclerosis
MedGen UID:
356830
Concept ID:
C1867743
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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
Shamburek RD, Bakker-Arkema R, Auerbach BJ, Krause BR, Homan R, Amar MJ, Freeman LA, Remaley AT
J Clin Lipidol 2016 Mar-Apr;10(2):356-67. Epub 2015 Dec 23 doi: 10.1016/j.jacl.2015.12.007. PMID: 27055967Free PMC Article
Puntoni M, Sbrana F, Bigazzi F, Sampietro T
Am J Cardiovasc Drugs 2012 Oct 1;12(5):303-11. doi: 10.2165/11634140-000000000-00000. PMID: 22913675

Recent clinical studies

Etiology

Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707
Westerterp M, Fotakis P, Ouimet M, Bochem AE, Zhang H, Molusky MM, Wang W, Abramowicz S, la Bastide-van Gemert S, Wang N, Welch CL, Reilly MP, Stroes ES, Moore KJ, Tall AR
Circulation 2018 Aug 28;138(9):898-912. doi: 10.1161/CIRCULATIONAHA.117.032636. PMID: 29588315Free PMC Article
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Asztalos BF, Schaefer EJ
Am J Cardiol 2003 Apr 3;91(7A):12E-17E. doi: 10.1016/s0002-9149(02)03383-0. PMID: 12679198
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Diagnosis

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
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505
Assmann G, Menzel HJ
Ric Clin Lab 1982 Jan-Mar;12(1):63-81. doi: 10.1007/BF02909310. PMID: 6806887
Narayanan S
CRC Crit Rev Clin Lab Sci 1979 Aug;11(1):31-51. doi: 10.3109/10408367909105853. PMID: 389551

Therapy

Cohen-Aubart F, Guerin M, Poupel L, Cluzel P, Saint-Charles F, Charlotte F, Arsafi Y, Emile JF, Frisdal E, Le Goff C, Donadieu J, Amoura Z, Lesnik P, Haroche J, Le Goff W
Arterioscler Thromb Vasc Biol 2018 Aug;38(8):1913-1925. doi: 10.1161/ATVBAHA.118.310803. PMID: 29930009
Ronsein GE, Reyes-Soffer G, He Y, Oda M, Ginsberg H, Heinecke JW
Mol Cell Proteomics 2016 Mar;15(3):1083-93. Epub 2015 Dec 14 doi: 10.1074/mcp.M115.054528. PMID: 26667175Free PMC Article
Fitzgerald ML, Mujawar Z, Tamehiro N
Atherosclerosis 2010 Aug;211(2):361-70. Epub 2010 Jan 21 doi: 10.1016/j.atherosclerosis.2010.01.011. PMID: 20138281Free PMC Article
Garg A, Simha V
J Clin Endocrinol Metab 2007 May;92(5):1581-9. doi: 10.1210/jc.2007-0275. PMID: 17483372
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195

Prognosis

Simonelli S, Ossoli A, Banfi C, Pavanello C, Calabresi L, Gianazza E
J Proteomics 2019 Apr 30;198:113-118. Epub 2018 Dec 6 doi: 10.1016/j.jprot.2018.12.005. PMID: 30529744
Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707
Cohen-Aubart F, Guerin M, Poupel L, Cluzel P, Saint-Charles F, Charlotte F, Arsafi Y, Emile JF, Frisdal E, Le Goff C, Donadieu J, Amoura Z, Lesnik P, Haroche J, Le Goff W
Arterioscler Thromb Vasc Biol 2018 Aug;38(8):1913-1925. doi: 10.1161/ATVBAHA.118.310803. PMID: 29930009
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Clinical prediction guides

Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707
Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ
J Lipid Res 2018 Dec;59(12):2421-2435. Epub 2018 Oct 17 doi: 10.1194/jlr.M088203. PMID: 30333156Free PMC Article
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
Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
J Lipid Res 1997 Feb;38(2):191-205. PMID: 9162740
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Recent systematic reviews

Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article

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