ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMI
Authors: C F WILKINSON, E A HAND, M T FLIEGELMAN
Journal: Annals of Internal Medicine (1948)

Article1 October 1948ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMICHARLES F. WILKINSON JR., M.D., EUGENE A. HAND, M.D., MAURICE T. FLIEGELMAN, M.D.CHARLES F. WILKINSON JR., M.D., EUGENE A. HAND, M.D., MAURICE T. FLIEGELMAN, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-29-4-671 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe metabolic disorder characterized by an increase of the total blood cholesterol with normal proportion of esters, and frequently an increase in the phospholipids, is designated by us as essential familial hypercholesterolemia. While this term does not follow the classifications proposed by Thannhauser,1, 2 Montgomery,3, 4 and others,5, 33, 34 it is more descriptive and useful.While many pathological conditions have been known to be associated with xanthomatous deposits in the skin, the significance of the primary metabolic disorder has not been fully recognized. Too much emphasis has been placed on xanthoma tuberosum, xanthoma tendinosum, and xanthelasma.We were presented...Bibliography1. THANNHAUSERMAGENDANTZ SJH: The different clinical groups of xanthomatous diseases, a clinical physiological study of 22 cases, Ann. Int. Med., 1938, xi, 1662-1746. LinkGoogle Scholar2. THANNHAUSER SJ: Lipidoses: diseases of the cellular lipid metabolism, 1940, Oxford Univ. Press, N. Y., p. 43. Google Scholar3. MONTGOMERY H: Cutaneous xanthomatosis, Ann. Int. Med., 1939, xiii, 671-676. Google Scholar4. MONTGOMERY H: Cutaneous manifestations of diseases of lipoid metabolism, Med. Clin. N. Am., 1940, xxiv, 1249-1269. 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PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDoes low-density lipoprotein fully explain atherosclerotic risk in familial hypercholesterolemia?Familial Hypercholesterolemia: Update and ReviewFamilial hypercholesterolaemiaSpectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutationsOxidative theory of atherosclerosis and antioxidantsThe Agenda for Familial HypercholesterolemiaHypercholesterolemia and Atherosclerosis in Humans: Causally Related?In Search of a PathogenesisThematic review series: The Pathogenesis of Atherosclerosis. An interpretive history of the cholesterol controversy, part III: mechanistically defining the role of hyperlipidemiaThematic review series: The Pathogenesis of Atherosclerosis. An interpretive history of the cholesterol controversy: part II:the early evidence linking hypercholesterolemia to coronary disease in humansThe relationship of hypercholesterolemia to atherosclerosis with particular emphasis on familial hypercholesterolemia, diabetes mellitus, obstructive jaundice, myxedema, and the nephrotic syndromeClassification of primary dyslipoproteinemiasDominance and homozygosity in manDisorders of Cholesterol Metabolism: The HyperlipoproteinaemiasPrevalence of coronary artery disease and peripheral artery disease in patients with different types of primary hyperlipidemiaType II-HyperlipoproteinemiaStudy of the genetic transmission of hypercholesterolemia and hypertriglyceridemia in a 195 member kindredIntestinal bypass proceduresFamilial cholesterolemia in pigeonsCoronary Artery Disease in 116 Kindred with Familial Type II HyperlipoproteinemiaReferencesPreliminary Results of Bidirectional Selection for Yolk Cholesterol Level in Laying HensÉtude clinique, biologique et génétique de la forme réguliére de la xanthomatose tendineuse hypercholestérol-émique familialeType II hyperlipoproteinaemiaREFERENCESThe inheritance of familial hypercholesterolemiaDiabetes mellitus und HyperlipämieDetection of individual susceptibility toward coronary diseaseReferencesHEREDITY IN PRIMARY HYPER-β-LIPOPROTEINEMIA WITH CONCOMITANT XANTHOMATACorneal Arc Full CircleRICHARD C. KEECHHyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.Arcus Not So Senilis*PLACIDO V. J. MACARAEG JR., M.D., LOUIS LASAGNA, M.D., BRUCE SNYDER, B.S.Aortic stenosis and myocardial infarction in hypercholesterolemic xanthomatosisFat Transport in Lipoproteins — An Integrated Approach to Mechanisms and DisordersGenetic Aspects of LipidosesThe General Appearance (Habitus)"Juvenile" Xanthomatosis - a Recessive Inherited Disease?Erbliche Anomalien der PlasmalipoideDyslipidosesEditorialThe inheritance of essential familial hypercholesterolemiaHereditary aspects of coronary heart diseaseFamilial hypercholesterolemia and xanthomatosisUse of an anion exchange resin in treatment of two siblings with familial hypercholesterolemiaFamilial Hypercholesterolaemic Xanthomatosis and Coronary DiseaseXANTHOMA TUBEROSUM MULTIPLEX COMPLETE RECOVERY WITH CHOLESTEROL-LOWERING DIETBackground of the patient with coronary heart diseaseXanthomatosisAblagerungskrankheiten körpereigener StoffwechselprodukteEstimates of Genetic Parameters of Serum Cholesterol LevelSerum Cholesterol and Heredity A Twin StudyBlood Plasma Cholesterol Changes during a Physical Training ProgramPRELIMINARY STUDY OF FAMILY WITH HEREDITARY HYPERCHOLESTEROLAEMIC XANTHOMATOSISDynamic Aspects of Cholesterol Metabolism in Different Areas of the Aorta and Other Tissues in Man and Their Relationship to AtherosclerosisGenetic Studies of Serum Cholesterol Level in the ChickenEssential Hypercholesterolaemia in Two Siblings:Effect of Corn Oil on Serum-LipoidsDie Coronarerkrankungen. 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WILKINSON JR., M.D., F.A.C.P.FAMILIAL HYPERCHOLESTEROLÆMIATEACHING AT THE COLLEGE OF SURGEONSEssential familial hypercholesterolemia and xanthomatosisLIPIDS AND LIPOPROTEINS IN SERUM IN CASES OF FAMILIAL ESSENTIAL HYPERCHOLESTEREMIA AND XANTHOMATOSIS.Genetic factors in the diseases of later lifeLes manifestation oculaires des troubles primitifs du metabolisme des lipides: Étude clinique, génétique et anatomo-pathologiqueClinical Detection of the Genetic Carrier State in Ophthalmic Pathology*THE PHOSPHOLIPID-CHOLESTEROL RELATIONSHIP IN HUMAN PLASMA: ITS IMPLICATIONS IN THE ATHEROSCLEROSIS PROBLEMTHE RATIO BETWEEN PHOSPHOLIPID AND THE CHOLESTEROLS IN PLASMA AS AN INDEX OF HUMAN ATHEROSCLEROSIS*RAYMOND S. JACKSON, M.D., CHARLES F. WILKINSON JR., M.D., F.A.C.P.Lipid Diseases as Manifested in the SkinEvaluation of Nutrition in PregnancyArteriosclerosis and diabetesStudy of Essential Familial Hypercholesterolemia. Relationship of Diet and Blood Cholesterol Level 1 October 1948Volume 29, Issue 4Page: 671-686KeywordsBloodCholesterolDermatologyFamilial hypercholesterolemiaGraduate medical educationHeredityMetabolic disordersPhospholipidsResearch laboratories ePublished: 1 December 2008 Issue Published: 1 October 1948 PDF downloadLoading ...