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Familial High Density Lipoprotein Deficiency(FHD; HDLD)

MedGen UID:
444154
•Concept ID:
C2931838
•
Disease or Syndrome
Synonyms: FAMILIAL HDL DEFICIENCY; FHD; HDLD; HIGH DENSITY LIPOPROTEIN DEFICIENCY
SNOMED CT: Familial HDL deficiency (15346004)
 
OMIM®: 600046; 604091

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
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

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
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
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
Lapicka-Bodzioch K, Bodzioch M, Krüll M, Kielar D, Probst M, Kiec B, Andrikovics H, Böttcher A, Hubacek J, Aslanidis C, Suttorp N, Schmitz G
Biochim Biophys Acta 2001 Jul 27;1537(1):42-8. doi: 10.1016/s0925-4439(01)00053-9. PMID: 11476961
Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).
Schaefer EJ, Zech LA, Schwartz DE, Brewer HB Jr
Ann Intern Med 1980 Aug;93(2):261-6. doi: 10.7326/0003-4819-93-2-261. PMID: 7406376

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
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
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
Fasano T, Bocchi L, Pisciotta L, Bertolini S, Calandra S
J Lipid Res 2005 Apr;46(4):817-22. Epub 2005 Feb 1 doi: 10.1194/jlr.D400038-JLR200. PMID: 15722566
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent.
Kastelein JJ, Pritchard PH, Erkelens DW, Kuivenhoven JA, Albers JJ, Frohlich JJ
J Intern Med 1992 Apr;231(4):413-9. doi: 10.1111/j.1365-2796.1992.tb00953.x. PMID: 1588268

Prognosis

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
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

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
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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