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Hypoalphalipoproteinemia, primary, 2

MedGen UID:
1789263
Concept ID:
C5551172
Disease or Syndrome
Synonyms: HIGH DENSITY LIPOPROTEIN DEFICIENCY; HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL RECESSIVE
 
Gene (location): APOA1 (11q23.3)
 
Monarch Initiative: MONDO:0032766
OMIM®: 618463

Definition

Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091. [from OMIM]

Clinical features

From HPO
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.
Tendon xanthomatosis
MedGen UID:
450999
Concept ID:
C0221253
Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Arcus senilis
MedGen UID:
8179
Concept ID:
C0003742
Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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
Kwiterovich PO Jr
Pediatr Clin North Am 1990 Dec;37(6):1489-523. doi: 10.1016/s0031-3955(16)37021-3. PMID: 2259550

Recent clinical studies

Etiology

Gutiérrez-Esparza G, Pulido T, Martínez-García M, Ramírez-delReal T, Groves-Miralrio LE, Márquez-Murillo MF, Amezcua-Guerra LM, Vargas-Alarcón G, Hernández-Lemus E
Front Public Health 2023;11:1213926. Epub 2023 Sep 20 doi: 10.3389/fpubh.2023.1213926. PMID: 37799151Free 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
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
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

Gutiérrez-Esparza G, Pulido T, Martínez-García M, Ramírez-delReal T, Groves-Miralrio LE, Márquez-Murillo MF, Amezcua-Guerra LM, Vargas-Alarcón G, Hernández-Lemus E
Front Public Health 2023;11:1213926. Epub 2023 Sep 20 doi: 10.3389/fpubh.2023.1213926. PMID: 37799151Free 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
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
Kwiterovich PO Jr
Pediatr Clin North Am 1990 Dec;37(6):1489-523. doi: 10.1016/s0031-3955(16)37021-3. PMID: 2259550

Therapy

Gutiérrez-Esparza G, Pulido T, Martínez-García M, Ramírez-delReal T, Groves-Miralrio LE, Márquez-Murillo MF, Amezcua-Guerra LM, Vargas-Alarcón G, Hernández-Lemus E
Front Public Health 2023;11:1213926. Epub 2023 Sep 20 doi: 10.3389/fpubh.2023.1213926. PMID: 37799151Free 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
Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195
Mentis SW
Anesth Analg 1996 Aug;83(2):427-9. doi: 10.1097/00000539-199608000-00040. PMID: 8694332
Edelstein C, Fredenrich C, Schuelke JC, Jensen WE, Sitrin M, Iverius PH, Scanu AM
Metabolism 1993 Feb;42(2):247-57. doi: 10.1016/0026-0495(93)90043-n. PMID: 8474323

Prognosis

Gutiérrez-Esparza G, Pulido T, Martínez-García M, Ramírez-delReal T, Groves-Miralrio LE, Márquez-Murillo MF, Amezcua-Guerra LM, Vargas-Alarcón G, Hernández-Lemus E
Front Public Health 2023;11:1213926. Epub 2023 Sep 20 doi: 10.3389/fpubh.2023.1213926. PMID: 37799151Free PMC Article
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
Hirashio S, Ueno T, Naito T, Masaki T
Clin Exp Nephrol 2014 Apr;18(2):189-93. Epub 2013 Oct 31 doi: 10.1007/s10157-013-0895-4. PMID: 24174160
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

Gutiérrez-Esparza G, Pulido T, Martínez-García M, Ramírez-delReal T, Groves-Miralrio LE, Márquez-Murillo MF, Amezcua-Guerra LM, Vargas-Alarcón G, Hernández-Lemus E
Front Public Health 2023;11:1213926. Epub 2023 Sep 20 doi: 10.3389/fpubh.2023.1213926. PMID: 37799151Free PMC Article
Mszar R, Webb GB, Kulkarni VT, Ahmad Z, Soffer D
Med Clin North Am 2022 Mar;106(2):325-348. Epub 2022 Feb 10 doi: 10.1016/j.mcna.2021.11.009. PMID: 35227434
Hooper AJ, Hegele RA, Burnett JR
Curr Opin Lipidol 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. PMID: 32022754
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
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

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