Advertisement

Etude clinique, biologique, génétique et thérapeutique de la xanthomatose tubereuse pure A propos de 20 observations

      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      On the basis of 20 cases of pure xanthoma tuberosum multiplex and data collected from the literature, the authors outline the clinical, biological, genetic and therapeutic characteristics of this affection.
      Clinically, the emphasis is on the exclusiveness of tuberous xanthomas (with the exception of borderline cases which involve a single small tendinous xanthoma), the fact that they are as persistent as the biological anomalies, and the importance and early occurrence of atheromatous complications.
      The characteristic biological feature is the truly intermediate position of the chemical as well as the electrophoretic lipid pattern between that of essential hypercholesteraemia and that of endogenous hyperglyceridaemia. This leads the author to a rejection of typological rigidity, which might preclude a comparison (so desirable in this context) of different electrophoretic patterns, specifically type III and type II + IV. The condition involves truly mixed hyperlipidaemia - both hypercholesteraemia and hyperglyceridaemia — which produces a pattern quite different from type II or essential hyperlipaemia.
      Genetically, it seems likely that pure xanthoma tuberosum multiplex, as expressive of mixed hyperlipidaemia, is a homologue of cutaneotendinous xanthoma as expressive of essential hypercholesteraemia, that is to say: a homozygous cumulate form of a minor defect, generally transmitted as an autosomal dominant.
      The above criteria, together with the excellent therapeutic response to a combination of dietetic measures (glucide restriction or total caloric restriction, and substitution of unsaturated fatty acids) and medication with aryloxybutyrate derivatives, characterize pure xanthoma tuberosum multiplex as a distinct pathological entity which is the prototype or reference model of mixed hyperlipidaemia.

      Keywords

      Abbreviations:

      A. G. L. (acides gras libres (en μéquiv/1)), C.T. (cholestérol total (en mg/100 ml)), D.O. (densité optique, mesurée au spectrophotomètre a 650 mμ), H. G. P. (hyperglycémie provoquée (per os) (0: normale), + (dépassement d'un des 3 critères de FAJANS ET CONN), ++ (dépassement de 2 critères de FAJANS ET CONN), +++ (dépassement des 3 critères de FAJANS ET CONN)), K.P. (kunkel phénol (en degrés Vernes)), α-LP (alpha-lipoprotéines), β-LP (bêta-lipoprotéines), L.T. (lipides totaux (en mg/100 ml)), P.H.L.A. (activité lipoprotéine-lipase in vitro (en μéqiv/ml/min)), P.L. (phospholipides (en mg/100 ml)), T.G. (triglycérides (en mg/100 ml))
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Atherosclerosis
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Fredrickson D.S.
        • Lees R.S.
        A system for phenotyping hyperlipoproteinemia.
        Circulation. 1965; 31: 321
        • Lees R.S.
        • Hatch F.T.
        Sharper separation of lipoprotein species by paper electrophoresis in albumin-containing buffer.
        J. Lab. Clin. Med. 1963; 16: 518
        • Fredrickson D.S.
        • Lees R.S.
        Familial hyperlipoproteinemia..
        in: Stanbury J.B. Wyngaarden J.B. Fredrickson D.S. The Metabolic Basis of Inherited Diseases. 2nd edition. McGraw-Hill, New York, N.Y.,1967: 429
        • Fredrickson D.S.
        • Levy R.I.
        • Lees R.S.
        Fat transport in lipoproteins. An integrated approach to mechanisms and disorders.
        N. Engl. J. Med. 1967; 276: 32-44
        • Fredrickson D.S.
        • Levy R.I.
        • Lees R.S.
        Fat transport in lipoproteins. An integrated approach to mechanisms and disorders.
        N. Engl. J. Med. 1967; 276: 94-103
        • Fredrickson D.S.
        • Levy R.I.
        • Lees R.S.
        Fat transport in lipoproteins. An integrated approach to mechanisms and disorders.
        N. Engl. J. Med. 1967; 276: 148-156
        • Fredrickson D.S.
        • Levy R.I.
        • Lees R.S.
        Fat transport in lipoproteins. An integrated approach to mechanisms and disorders.
        N. Engl. J. Med. 1967; 276: 215-226
        • Fredrickson D.S.
        • Levy R.I.
        • Lees R.S.
        Fat transport in lipoproteins. An integrated approach to mechanisms and disorders.
        N. Engl. J. Med. 1967; 276: 273-281
        • Grigaut A.
        Détermination du cholestérol sanguin.
        C.R. Soc. Biol. 1910; 68: 781
        • Chabrol E.
        • Charonnat R.
        Détermination des lipides totaux sanguins.
        Presse Méd. 1937; 45: 1713
        • Van Handel E.
        • Zilversmit D.B.
        Micromethod for the direct determination of serum triglycerides.
        J. Lab. Clin. Med. 1957; 50: 152
        • Zilversmit D.B.
        • Davis A.K.
        Microdetermination of plasma phospholipids by trichloro-acetic acid precipitation.
        J. Lab. Clin. Med. 1950; 35: 155
        • Duncombe W.G.
        The colorimetric micro-determination of non-esterified fatty acids in plasma.
        Clin. Chim. Acta. 1964; 9: 122
        • Havel R.J.
        • Eder H.A.
        • Bragdon J.H.
        The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum.
        J. Clin. Invest. 1955; 34: 1345
        • Folin G.
        • Denis C.
        Dosage de l'acide urique clans le sérum sanguin.
        C.R. Soc. Biol. 1920; 83: 1273
        • Yalow R.S.
        • Berson S.A.
        Immuno-assay of endogenous plasma insulin in man.
        J. Clin. Invest. 1960; 39: 1157
        • Fredrickson D.S.
        • Ono K.
        • Davis L.L.
        Lipolytic activity of post-heparin plasma in hypergIyceridemia.
        J. Lipid Res. 1963; 4: 24
        • De Gennes J.-L.
        Les hyperlipidemies idiopathiques. Proposition d'une classification simplifiée.
        Presse Méd. 1971; 79: 791
        • De Gennes J.-L.
        • Turpin G.
        • Truffert J.
        Formes cutanéo-tendineuses de xanthomatose hypercholestérolémique. Etude chnique, biologique et génétique de 11 cas.
        Atherosclerosis. 1971; 13: 147
        • Borrie P.
        Type III hyperlipoproteinemia.
        Brit. Med. J. 1969; 2: 665
        • Boggs J.D.
        • Hsia D.Y.
        • Mats R.F.
        • Bigler J.A.
        The genetic mechanism for idiopathic hyperlipemia.
        N. Engl. J. Med. 1957; 257: 1101
        • MacCleary J.
        • Brunsting L.
        • Kennedy R.
        Primary xanthoma tuberosum in children with classification of xanthomas.
        Pediatrics. 1959; 23: 67
        • De Gennes J.-L.
        • Bouchon J.P.
        Les hyperlipémies ou hyperglyceridémies idiopathiques.
        Rev. Prat. 1965; 15: 4095
        • Rondier J.
        • Truffert J.
        • Le Go A.
        • Brouilhet H.
        • Saporta L.
        • De Gennes J.-L.
        • Delbarre F.
        Goutte et hyperlipidémies. Etude portant sur 50 goutteux et sur 50 sujets non goutteux.
        Rev. Eur. Et. Clin. Biol. 1970; 15: 959
        • De Gennes J.-L.
        • Rouffy J.
        • Chain F.
        Complications Vasculaires cérébrales des xanthcmatoses tendineuses hypercholestérolémiques familiales.
        Bull. Soc. Méd. Hôp. Paris. 1968; 119: 569