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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): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

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).

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Decreased HDL cholesterol concentration

MedGen UID:: 57731
•Concept ID:: C0151691
•: Finding

An decreased concentration of high-density lipoprotein cholesterol in the blood.

See: Feature record | Search on this feature

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.

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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.

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Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
Abnormality of the cardiovascular system
- Premature coronary artery atherosclerosis
Abnormality of the eye
- Arcus senilis
- Cataract
Abnormality of the musculoskeletal system
- Tendon xanthomatosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial hypoalphalipoproteinemia
- CROGVHypoalphalipoproteinemia, primary, 1
- CROGVHypoalphalipoproteinemia, primary, 2

Familial hypoalphalipoproteinemia
- Hypoalphalipoproteinemia, primary, 2

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: 27565770 Free PMC Article

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

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: 27055967 Free PMC Article

Diagnosis and management of familial dyslipoproteinemia in children and adolescents.

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

See all (4)

Recent clinical studies

Etiology

Tangier disease: update for 2020.

Hooper AJ, Hegele RA, Burnett JR
Curr Opin Lipidol 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. PMID: 32022754

Hypoalphalipoproteinemia in populations of Native American ancestry: an opportunity to assess the interaction of genes and the environment.

Aguilar-Salinas CA, Canizales-Quinteros S, Rojas-Martínez R, Mehta R, Villarreal-Molina MT, Arellano-Campos O, Riba L, Gómez-Pérez FJ, Tusié-Luna MT
Curr Opin Lipidol 2009 Apr;20(2):92-7. doi: 10.1097/mol.0b013e3283295e96. PMID: 19280764

ABCA1 and atherosclerosis.

Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195

Analysis of familial hypoalphalipoproteinemia syndromes.

Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505

Primary and familial hypoalphalipoproteinemia.

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

See all (97)

Diagnosis

A machine learning approach to personalized predictors of dyslipidemia: a cohort study.

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: 37799151 Free PMC Article

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: 27565770 Free PMC Article

ABCA1 and atherosclerosis.

Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195

Analysis of familial hypoalphalipoproteinemia syndromes.

Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505

Diagnosis and management of familial dyslipoproteinemia in children and adolescents.

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

See all (88)

Therapy

A machine learning approach to personalized predictors of dyslipidemia: a cohort study.

Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone.

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: 26667175 Free PMC Article

ABC transporters, atherosclerosis and inflammation.

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: 20138281 Free PMC Article

ABCA1 and atherosclerosis.

Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195

Tangier disease.

Mentis SW
Anesth Analg 1996 Aug;83(2):427-9. doi: 10.1097/00000539-199608000-00040. PMID: 8694332

See all (33)

Prognosis

A machine learning approach to personalized predictors of dyslipidemia: a cohort study.

A proteomic approach to identify novel disease biomarkers in LCAT deficiency.

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

Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.

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

ABCA1 and atherosclerosis.

Soumian S, Albrecht C, Davies AH, Gibbs RG
Vasc Med 2005 May;10(2):109-19. doi: 10.1191/1358863x05vm593ra. PMID: 16013195

Primary and familial hypoalphalipoproteinemia.

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

See all (37)

Clinical prediction guides

A machine learning approach to personalized predictors of dyslipidemia: a cohort study.

Tangier disease: update for 2020.

Hooper AJ, Hegele RA, Burnett JR
Curr Opin Lipidol 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. PMID: 32022754

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: 27565770 Free PMC Article

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.

Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
J Lipid Res 1997 Feb;38(2):191-205. PMID: 9162740

Primary and familial hypoalphalipoproteinemia.

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

See all (96)

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Hypoalphalipoproteinemia, primary, 2

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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