Tangier Disease
Authors: DONALD S. FREDRICKSON
Journal: Annals of Internal Medicine (1961)

Clinical Staff Conference1 December 1961Tangier DiseaseCombined Clinical Staff Conference at the National Institutes of HealthDONALD S. FREDRICKSON, M.D., PAUL H. ALTROCCHI, M.D., LOUIS V. AVIOLI, M.D., DE WITT S. GOODMAN, M.D., HOWARD C. GOODMAN, M.D.DONALD S. FREDRICKSON, M.D., PAUL H. ALTROCCHI, M.D., LOUIS V. AVIOLI, M.D., DE WITT S. GOODMAN, M.D., HOWARD C. GOODMAN, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-55-6-1016 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. Donald S. Fredrickson: This is the story of an island, a family, and a strange malady. In telling it we hope to acquaint you with some of the biochemical approaches to current problems in both fat transport and the lipid storage diseases. Since our story lends itself to the narrative style, we are taking advantage of this in our presentation.In addition to those of us who have been concerned specifically with the study of an abnormality which we have termed "Tangier disease," we are fortunate to have Dr. Louis Avioli and Dr. De Witt Goodman as discussants.Dr....References1. FREDRICKSONALTROCCHI DSPH: Tangier disease (familial cholesterolosis with high-density lipoprotein deficiency). Sphingolipidoses, ed. by Aronson, S. M., and Volk, B. W., Academic Press, New York. To be published. Google Scholar2. NIEMANN A: Ein unbekanntes Krankheitsbild. Jahrb. Kinderh. 79: 1, 1914. Google Scholar3. FREDRICKSON DS: Niemann-Pick disease, in The Metabolic Basis of Inherited Disease, ed. by Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., McGraw-Hill Book Company, Inc., New York, 1960, p. 580. Google Scholar4. HANAHANDITTMERWARASHINA DJJCE: A column chromatographic separation of classes of phospholipides. J. Biol. Chem. 228: 685, 1957. CrossrefMedlineGoogle Scholar5. THANNHAUSERMAGENDANTZ SJH: The different clinical groups of xanthomatous diseases; a clinical physiological study of 22 cases. Ann. Intern. Med. 11: 1662, 1939. LinkGoogle Scholar6. COWIEMAGEE DMMC: Lipoids and lipoid diseases. III. Lipoid content of tissues in Schüller-Christian's disease (xanthomatosis) and review of literature on lipoid content of human tissues. Arch. Intern. Med. 53: 391, 1934. CrossrefGoogle Scholar7. BIERMANLANMANDODKELLYMILLERSHIMKIN HRJTKSKHERMB: The ameliorative effect of antibiotics on non-lipoid reticuloendotheliosis (Letterer-Siwe disease) in identical twins. J. Pediat. 40: 269, 1952. CrossrefMedlineGoogle Scholar8. HALLGRENSTENHAGENSVANBORGSVENNERHOLM BSAL: Gas chromatographic analysis of the fatty acid composition of the plasma lipids in normal and diabetic subjects. J. Clin. Invest. 39: 1424, 1960. CrossrefMedlineGoogle Scholar9. TAVORMINAGIBBSHUFF PAMHJW: The utilization of β-hydroxy-β-methyl δ-valerolactone in cholesterol biosynthesis. J. Amer. Chem. Soc. 78: 4498, 1956. CrossrefGoogle Scholar10. FREDRICKSONGORDON DSRS: Transport of fatty acids. Physiol. Rev. 38: 585, 1958. CrossrefMedlineGoogle Scholar11. GITLINCORNWELLNAKASATOONCLEYHUGHESJANEWAY DDGDJLWLC: Studies on the metabolism of plasma proteins in the nephrotic syndrome. J. Clin. Invest. 37: 172. 1958. CrossrefMedlineGoogle Scholar12. RODBELLFREDRICKSON MDS: The nature of the proteins associated with dog and human chylomicrons. J. Biol. Chem. 234: 562, 1959. CrossrefMedlineGoogle Scholar13. SCANUPAGE AIH: Separation and characterization of human serum chylomicrons. J. Exp. Med. 109: 239, 1959. CrossrefMedlineGoogle Scholar14. HAVELEDERBRAGDON RJHAJH: The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34: 1345, 1955. CrossrefMedlineGoogle Scholar15. SALTWOLFFLLOYDFOSBROOKECAMERONHUBBLE HBOHJKASAHDV: On having no beta-lipoprotein: a syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. Lancet 2: 325, 1960. CrossrefMedlineGoogle Scholar16. HOTTACHAIKOFF SIL: The role of the liver in the turnover of plasma cholesterol Arch. Biochem. Biophys. 56: 28, 1955. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: DONALD S. FREDRICKSON, M.D.; PAUL H. ALTROCCHI, M.D.; LOUIS V. AVIOLI, M.D.; DE WITT S. GOODMAN, M.D.; HOWARD C. GOODMAN, M.D.Affiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Maryland, by the National Heart Institute, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare.Requests for reprints should be addressed to Donald S. Fredrickson, M.D., National Heart Institute, Bethesda 14, Maryland.A preliminary report of this disease was presented at the Symposium on Sphingolipidoses held in Brooklyn, New York, March 29, 1961 (1). 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Part 1: history, demographics, legislation, and burden of diseaseLipidstoffwechselstörungenDiscovery of High-Density Lipoprotein Gene Targets from Classical Genetics to Genome-Wide Association StudiesGenetic Susceptibility in Biochemical and Physiological TraitsLoss‐of‐function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular diseaseHuman genetics of HDL: Insight into particle metabolism and functionVascular GeneticsThe curious case of the orange coloured tonsilsABCA1 and nascent HDL biogenesisTangier disease in a Turkish familyDisorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of DiseaseA man with low cholesterol and weakness of the lower limbsVascular GeneticsPlatelet activating factor levels and metabolism in tangier disease: a case studyRecurrent Lobar Intracerebral Hemorrhage in Tangier DiseaseTangier DiseaseLipidstoffwechselstörungenATP-binding cassette transporter A1 and HDL metabolism: effects of fatty acidsThe NIH Clinical Center and the future of clinical researchAn ABCA1-independent pathway for recycling a poorly lipidated 8.1 nm apolipoprotein E particle from gliaAlteration of negatively charged residues in the 89 to 99 domain of apoA-I affects lipid homeostasis and maturation of HDLHDL: o yin-yang da doença cardiovascularCharacterization of apoA-I-dependent lipid efflux from adipocytes and role of ABCA1ABC transporters, atherosclerosis and inflammationTangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532CGenetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general populationATP Binding Cassette A1 Transporter Function and Tangier DiseaseA novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendencyDisorders of Lipid MetabolismEffect of ABCA1 mutations on risk for myocardial infarctionAbdominal localization of Tangier disease mimicking a pancreatic neoplasmClinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein–deficiency statesElevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosisCorneal Manifestations of Metabolic DiseaseGrosses amygdales orangées et HDL-cholestérol très basFamilial occurrence of abnormalities of high-density lipoprotein cholesterolTangier Disease with Severe Coronary Artery Disease and Arteriosclerosis ObliteransDiseases of intramembranous lipid transportPromoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemiaVariations on a Gene: Rare and Common Variants in ABCA1 and Their Impact on HDL Cholesterol Levels and AtherosclerosisUsing Mutual Information to Measure the Impact of Multiple Genetic Factors on AIDSThe Absence of ABCA1 Decreases Soluble ApoE Levels but Does Not Diminish Amyloid Deposition in Two Murine Models of Alzheimer DiseaseATP-Binding Cassette Transporter A1: A Cell Cholesterol Exporter That Protects Against Cardiovascular DiseaseTangier Disease and NeuropathyCholesterol at the crossroads: Alzheimer's disease and lipid metabolismHigh-density lipoproteins: multifunctional vanguards of the cardiovascular systemHeterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle sizeStudy of ABCA1 Function in Transgenic MiceTruncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterolOcular lipid deposition and hyperlipoproteinaemiaABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levelsThe ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout miceGenetics and Prevention: A New Look at High-Density Lipoprotein CholesterolMonogenic Dyslipidemias: Window on Determinants of Plasma Lipoprotein MetabolismCholesterol and apolipoprotein B metabolism in Tangier diseaseSubpopulations of high density lipoproteins in homozygous and heterozygous Tangier diseaseCommon Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery DiseaseCellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblastsTangier disease and ABCA1Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotesComplete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoterCellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle sizeInterferon-γ Induces Downregulation of Tangier Disease Gene (ATP-Binding-Cassette Transporter 1) in Macrophage-Derived Foam CellsA study of contemporary levels and temporal trends in inbreeding in the Tangier Island, Virginia, population using pedigree data and isonymyHDL steady state levels are not affected, but HDL apoA-I turnover is enhanced by Lifibrol in patients with hypercholesterolemia and mixed hyperlipidemiaOld and new players in the lipoprotein systemDifferential response to low-fat diet between low and normal HDL-cholesterol subjectsNovel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindredsStoffwechselerkrankungen der LeberDisorders of Lipoprotein and Lipid MetabolismHuman ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindredEffluxed lipids: Tangier Island's latest exportThe ABCs of cholesterol effluxMutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiencyThe gene encoding ATP-binding cassette transporter 1 is mutated in Tangier diseaseAtheroprotective mechanisms of HDLRachen und TonsillenAssignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategyLipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patientsPlasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-ICoexistence of Digeorge Syndrome and Tangier Disease in a One-Year-Old Infant. Case Report and Review of the LiteratureDecreased Reverse Cholesterol Transport from Tangier Disease FibroblastsApolipoprotein-mediated removal of cellular cholesterol and phospholipidsCase 16-1996Hauterkrankungen durch Störungen des Lipoprotein- und Lipidstoffwechsels[2] Significance of apolipoproteins for structure, function, and classification of plasma lipoproteinsActivation of Phosphatidylinositol-Specific Phospholipase C in Response to HDL 3 and LDL Is Markedly Reduced in Cultured Fibroblasts From Tangier PatientsSevere Familial HDL Deficiency in French-Canadian KindredsHDL-Mediated Efflux of Intracellular Cholesterol Is Impaired in Fibroblasts From Tangier Disease PatientsReferencesFamilial lipoprotein disorders and premature coronary artery diseaseSevere aortic stenosis and atherosclerosis in a young man with tangier diseaseHomozygous Tangier disease and cardiovascular diseaseFamilial lipoprotein disorders and premature coronary artery diseaseFamilial HDL deficiency due to marked hypercatabolism of normal apoA-I.High-density lipoprotein subfractionsGenetic Mutations Affecting Human Lipoproteins, Their Receptors, and Their EnzymesAortic features in tangier disease and pathogenetic considerations ? Part I. Fatty dots and streaksPathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier diseaseThe cornea and disorders of lipid metabolismAbnormal processing of Golgi elements and lysosomes in Tangier disease.Systemic Lipid Storage DiseasesDysregulation of lipid metabolism in Tangier monocyte-derived macrophages.Abnormalities in cholesterol metabolism cause peripheral neuropathy and dementia in AIDS—A hypothesisThe Molecular Biology of Occlusive Stroke in ChildhoodTangier disease in a black patient: An unusual clinical presentationHypocholesterolemia in childhoodHuman Apolipoprotein A-ISelective reduction of cholesterol in HDL2 fraction by probucol in familial hypercholesterolemia and hyperHDL2 cholesterolemia with abnormal cholesteryl ester transferSequence and expression of Tangier apoA-I geneLecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease)Genetic HDL Deficiency StatesHuman Apolipoprotein A-I and A-II MetabolismDeficiency of apolipoproteins a-i and c-iii and severe coronary heart diseaseImmunochemical study of the plasma low and high density lipoproteins in Tangier diseaseGenetic High Density Lipoprotein Deficiency States and AtherosclerosisThe Molecular Biology of Human ApoA-I, ApoA-II, ApoC-II and ApoBNeuropathy in Tangier disease: A clinicopathologic study and a review of the literatureSevere polyneuropathy in tangier disease mimicking syringomyelia or leprosyTangier disease. The complete mRNA sequence encoding for preproapo-A-I.Tangier DiseaseFamilial apolipoprotein A-I and C-III deficiency, variant II.Genetic Mutations Affecting Human Lipoprotein MetabolismDevelopmental implications of ocular pharmacologyApolipoprotein A-I of primates.Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.Tangier disease. In vitro conversion of proapo-A-ITangier to mature APO-A-ITangier.Lipid binding properties of the Tangier apolipoprotein A-I and its isoproteins.CORNEAL ARCUSRestriction Enzyme Analysis of the Apolipoprotein A-I Gene in Fish Eye Disease and Tangier DiseaseAngeborene StoffwechselkrankheitenA Japanese family with high density lipoprotein deficiencyHuman proapoA-ITangier: Isolation of proapoA-ITangier and amino acid sequence of the propeptideTangier disease with oral abnormalitiesApolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.Studies on High Density Lipoproteins in Fish Eye DiseaseChapter 11 LipoproteinsTangier Disease with Normal Serum Cholesterol*Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.Hypoalpha-hyperbeta-lipoproteinemia in a patient with coronary artery disease and occlusive peripheral arterial diseaseFish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia Clinical and laboratory studies in two afflicted familiesSymposium Genetik der angeborenen StoffwechselstörungenPlasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease)Relation between the HDL apoproteins and AI isoproteins in subjects with the AIMilano abnormalityMetabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins.Disorders of Cholesterol Metabolism: The HypolipoproteinaemiasCoronary Heart Disease Prevalence and Other Clinical Features in Familial High-Density Lipoprotein Deficiency (Tangier Disease)ERNST J. SCHAEFER, M.D., LOREN A. ZECH, M.D., DAVID E. SCHWARTZ, M.D., H. BRYAN BREWER Jr., M.D.Tangier DiseaseLipoproteins in Nutrition and TransportLicht- und elektronenmikroskopische sowie cytometrische Untersuchungen an peripheren Nerven beim Morbus TangierDie Tangier Krankheit ? Klinik und PathophysiologieApoprotein A-I Synthesis in Normal Intestinal Mucosa and in Tangier DiseaseEffect of low density lipoprotein and high density lipoprotein on sodium dodecyl sulphate precipitation of very low density lipoprotein from human serumAbnormal liver cholesteryl ester storage in a strain of golden hamstersMetabolism of High-Density Lipoprotein Apolipoproteins in Tangier DiseaseTangier DiseaseApoprotein a metabolism in tangier diseaseHigh density lipoprotein infusion and partial plasma exchange in Tangier diseaseAbnormal concentration and anomalous distribution of apolipoprotein A-I in Tangier diseaseDie LeberKlinische und morphologische Befunde beim Morbus Tangier (Hypo-?-Lipoprotein�mie) und seine Bedeutung f�r die Oto-Rhino-LaryngologieType III HyperlipoproteinemiaTangier-KrankheitStructure-Function Relationships of Lipoproteins in Tangier DiseaseLecithin-Cholesterol-Acyl-TransferaseDas PeritoneumCholesterol Metabolism in ManAccumulation of oxygenated steryl esters in Wolman's diseaseLipoproteins and Lipolytic Plasma Enzymes in a Case of Tangier DiseaseA-Betalipoproteinaemia and Familial Alphalipoprotein DeficiencyUntersuchung der Lecithin-Cholesterin-Acyltransferase-Aktivit�t im Serum von drei Patienten mit Tangier-Krankheit (Hyp-alpha-Lipoprotein�mie)Nerve biopsy findings in two cases of Tangier diseaseImmunochemische untersuchung und analytische isoelektrische fokussierung des serums eines patienten mit tangier-krankheitTangier DiseasePathology of Tangier diseaseMetabolism of Lipids and Its DefectsTWO MALE SIBLINGs' CASES OF SPECIFIC LIPIDOSIS FOUND BY ELECTRON MICROSCOPYII. PodiumsgesprächLipidstoffwechselstörungenISOLATION AND CHARACTERIZATION OF HUMAN CHYLE CHYLOMICRONS AND LIPOPROTEINSDisorders of the serum lipoproteins. I. Lipoprotein deficiency states.Die Erkrankungen des Rachens und des lymphatischen RachenringesSpeicherzellen bei An-alpha1-Lipoprotein�mieCytology of Intestinal Epithelial CellsImmunological evidence for the presence of B protein (apoprotein of Β-lipoprotein) in normal and abetalipoproteinemic plasmaFAMILIAL α-LIPOPROTEIN DEFICIENCY (TANGIER DISEASE) WITH NEUROLOGICAL ABNORMALITIESTangier DiseaseLipoproteinsHuman Serum Lipoproteins and Their InterrelationshipsCongenital β-lipoprotein deficiencyBiosynthesis of Lipoprotein by Rat Intestinal MucosaReferencesA Functional View of the Plasma LipoproteinsTangier disease (familial high density lipoprotein deficiency)Double Beta-Lipoprotein: A New Genetic Variant in ManProtein Synthesis Inhibition: Mechanism for the Production of Impaired Fat AbsorptionFactors Affecting Lipoprotein Metabolism1 1This work was supported by grants from the Public Health Service (HE 08727-01) and from the Chicago and Illinois Heart Associations.2 2Literature published after June 30, 1964, is not included in this survey.Synthesis of Lipoproteins by Rat Intestinal MucosaGenetic Defects in Protein MetabolismReferencesEffects of oil ingestion on lipoprotein fatty acids in manDIVISION OF BIOCHEMISTRY: CHEMOTHERAPEUTIC CONTROL OF SERUM LIPID LEVELS* 1 December 1961Volume 55, Issue 6 Page: 1016-1031 Keywords Blood plasma Cardiovascular therapy Cholesterol Fats Heart diseases Lipids Medical services Prevention, policy, and public health ePublished: 1 December 2008 Issue Published: 1 December 1961 PDF downloadLoading ...