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High density lipoprotein deficiency

MedGen UID:
757613
•Concept ID:
C3165209
•
Disease or Syndrome
SNOMED CT: High density lipoprotein deficiency (448834003)

Professional guidelines

PubMed

The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi HM, Chua YA, Watts GF
Curr Opin Cardiol 2020 May;35(3):226-233. doi: 10.1097/HCO.0000000000000721. PMID: 32097179
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 familial high density lipoprotein deficiency syndromes.
von Eckardstein A
Atherosclerosis 2006 Jun;186(2):231-9. Epub 2005 Dec 15 doi: 10.1016/j.atherosclerosis.2005.10.033. PMID: 16343506

Recent clinical studies

Etiology

Serum Lipids and Risk of Incident Psoriasis: A Prospective Cohort Study from the UK Biobank Study and Mendelian Randomization Analysis.
Xiao Y, Jing D, Tang Z, Peng C, Yin M, Liu H, Chen X, Shen M
J Invest Dermatol 2022 Dec;142(12):3192-3199.e12. Epub 2022 Jul 16 doi: 10.1016/j.jid.2022.06.015. PMID: 35850211
The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi HM, Chua YA, Watts GF
Curr Opin Cardiol 2020 May;35(3):226-233. doi: 10.1097/HCO.0000000000000721. PMID: 32097179
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 familial high density lipoprotein deficiency syndromes.
von Eckardstein A
Atherosclerosis 2006 Jun;186(2):231-9. Epub 2005 Dec 15 doi: 10.1016/j.atherosclerosis.2005.10.033. PMID: 16343506
High-density lipoprotein deficiency and dyslipoproteinemia associated with venous thrombosis in men.
Deguchi H, Pecheniuk NM, Elias DJ, Averell PM, Griffin JH
Circulation 2005 Aug 9;112(6):893-9. doi: 10.1161/CIRCULATIONAHA.104.521344. PMID: 16087810

Diagnosis

The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi HM, Chua YA, Watts GF
Curr Opin Cardiol 2020 May;35(3):226-233. doi: 10.1097/HCO.0000000000000721. PMID: 32097179
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 familial high density lipoprotein deficiency syndromes.
von Eckardstein A
Atherosclerosis 2006 Jun;186(2):231-9. Epub 2005 Dec 15 doi: 10.1016/j.atherosclerosis.2005.10.033. PMID: 16343506
Molecular diagnosis of ATP-binding cassette transporter-related diseases.
Schuierer MM, Langmann T
Expert Rev Mol Diagn 2005 Sep;5(5):755-67. doi: 10.1586/14737159.5.5.755. PMID: 16149878
Tangier disease. High density lipoprotein deficiency due to defective metabolism of an abnormal apolipoprotein A-i (ApoA-ITangier).
Schaefer EJ, Kay LL, Zech LA, Brewer HB Jr
J Clin Invest 1982 Nov;70(5):934-45. doi: 10.1172/jci110705. PMID: 7130397Free PMC Article

Therapy

Serum Lipids and Risk of Incident Psoriasis: A Prospective Cohort Study from the UK Biobank Study and Mendelian Randomization Analysis.
Xiao Y, Jing D, Tang Z, Peng C, Yin M, Liu H, Chen X, Shen M
J Invest Dermatol 2022 Dec;142(12):3192-3199.e12. Epub 2022 Jul 16 doi: 10.1016/j.jid.2022.06.015. PMID: 35850211
Analysis of Low Molecular Weight Substances and Related Processes Influencing Cellular Cholesterol Efflux.
Litvinov DY, Savushkin EV, Dergunov AD
Pharmaceut Med 2019 Dec;33(6):465-498. doi: 10.1007/s40290-019-00308-w. PMID: 31933239Free PMC Article
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy.
Dimick SM, Sallee B, Asztalos BF, Pritchard PH, Frohlich J, Schaefer EJ
J Clin Lipidol 2014 Mar-Apr;8(2):223-30. Epub 2013 Dec 11 doi: 10.1016/j.jacl.2013.11.005. PMID: 24636183
Reasons for the lack of salutary effects of cholesterol-lowering interventions in end-stage renal disease populations.
Vaziri ND, Norris KC
Blood Purif 2013;35(1-3):31-6. Epub 2013 Jan 22 doi: 10.1159/000345176. PMID: 23343544Free PMC Article
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-II.
Marzal-Casacuberta A, Blanco-Vaca F, Ishida BY, Julve-Gil J, Shen J, Calvet-Márquez S, González-Sastre F, Chan L
J Biol Chem 1996 Mar 22;271(12):6720-8. doi: 10.1074/jbc.271.12.6720. PMID: 8636092

Prognosis

Serum Lipids and Risk of Incident Psoriasis: A Prospective Cohort Study from the UK Biobank Study and Mendelian Randomization Analysis.
Xiao Y, Jing D, Tang Z, Peng C, Yin M, Liu H, Chen X, Shen M
J Invest Dermatol 2022 Dec;142(12):3192-3199.e12. Epub 2022 Jul 16 doi: 10.1016/j.jid.2022.06.015. PMID: 35850211
The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi HM, Chua YA, Watts GF
Curr Opin Cardiol 2020 May;35(3):226-233. doi: 10.1097/HCO.0000000000000721. PMID: 32097179
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.
Nishida Y, Hirano K, Tsukamoto K, Nagano M, Ikegami C, Roomp K, Ishihara M, Sakane N, Zhang Z, Tsujii Ki K, Matsuyama A, Ohama T, Matsuura F, Ishigami M, Sakai N, Hiraoka H, Hattori H, Wellington C, Yoshida Y, Misugi S, Hayden MR, Egashira T, Yamashita S, Matsuzawa Y
Biochem Biophys Res Commun 2002 Jan 18;290(2):713-21. doi: 10.1006/bbrc.2001.6219. PMID: 11785958
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.
Funke H, von Eckardstein A, Pritchard PH, Karas M, Albers JJ, Assmann G
J Clin Invest 1991 Jan;87(1):371-6. doi: 10.1172/JCI114997. PMID: 1898657Free PMC Article
Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease).
Chu FC, Kuwabara T, Cogan DG, Schaefer EJ, Brewer HB Jr
Arch Ophthalmol 1979 Oct;97(10):1926-8. doi: 10.1001/archopht.1979.01020020374020. PMID: 226043

Clinical prediction guides

Serum Lipids and Risk of Incident Psoriasis: A Prospective Cohort Study from the UK Biobank Study and Mendelian Randomization Analysis.
Xiao Y, Jing D, Tang Z, Peng C, Yin M, Liu H, Chen X, Shen M
J Invest Dermatol 2022 Dec;142(12):3192-3199.e12. Epub 2022 Jul 16 doi: 10.1016/j.jid.2022.06.015. PMID: 35850211
The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi HM, Chua YA, Watts GF
Curr Opin Cardiol 2020 May;35(3):226-233. doi: 10.1097/HCO.0000000000000721. PMID: 32097179
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
High-density lipoprotein deficiency and dyslipoproteinemia associated with venous thrombosis in men.
Deguchi H, Pecheniuk NM, Elias DJ, Averell PM, Griffin JH
Circulation 2005 Aug 9;112(6):893-9. doi: 10.1161/CIRCULATIONAHA.104.521344. PMID: 16087810
Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase.
Assmann G, Herbert PN, Fredrickson DS, Forte T
J Clin Invest 1977 Jul;60(1):242-52. doi: 10.1172/JCI108761. PMID: 194920Free PMC Article

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