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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.
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
Differential diagnosis of facial nerve palsy.
James DG
Sarcoidosis Vasc Diffuse Lung Dis 1997 Sep;14(2):115-20. PMID: 9306501
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

Recent clinical studies

Etiology

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
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
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

Diagnosis

Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden.
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
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
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

Therapy

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: 26667175Free PMC Article
Statins and beyond: concurrent strategies for prevention of cardiovascular disease in patients with type 2 diabetes.
Standl E
Diab Vasc Dis Res 2013 Mar;10(2):99-114. Epub 2012 Jun 20 doi: 10.1177/1479164112448876. PMID: 22718811
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: 20138281Free 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

Prognosis

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
Differential diagnosis of facial nerve palsy.
James DG
Sarcoidosis Vasc Diffuse Lung Dis 1997 Sep;14(2):115-20. PMID: 9306501
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

Clinical prediction guides

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
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
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
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

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