Advertisement

Commentary on rare dyslipidaemia paper

      Due to their rarity, rare lipoprotein disorders are largely under-recognised and undertreated. This is not surprising, as given their infrequency, clinicians may only see one or two affected people in their entire careers and misdiagnosis is therefore common. Furthermore, the fact that there are currently very few disease-specific rare lipoprotein disorder patient registries, means that there is a scarcity of quality information about the prevalence, pathophysiology, and outcomes of these disorders. Evidence-based clinical management of these conditions is therefore problematic.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic and PersonalCorporate R&D Professionals
      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

        • European Medicines Agency
        Orphan designation: overview.
        • Orphan Drug Act
        Rare Diseases Act of.
        2002
        • Hegele R.A.
        • Borén J.
        • Ginsberg H.N.
        • Arca M.
        • Averna M.
        • Binder C.J.
        • Calabresi L.
        • Chapman M.J.
        • Cuchel M.
        • von Eckardstein A.
        • Frikke-Schmidt R.
        • Gaudet D.
        • Hovingh G.K.
        • Kronenberg F.
        • Lütjohann D.
        • Parhofer K.G.
        • Raal F.J.
        • Ray K.K.
        • Remaley A.T.
        • Stock J.K.
        • Stroes E.S.
        • Tokgözoğlu L.
        • Catapano A.L.
        Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement.
        Lancet Diabetes Endocrinol. 2019; (Link:)https://doi.org/10.1016/S2213-8587(19)30264-5
        • Benn M.
        • Watts G.F.
        • Tybjærg-Hansen A.
        • Nordestgaard B.G.
        Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.
        Eur. Heart J. 2016; 37: 1384-1394
        • Do R.
        • Stitziel N.O.
        • Won H.H.
        • et al.
        Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
        Nature. 2015; 518: 102-106
        • Cuchel M.
        • Bruckert E.
        • Ginsberg H.N.
        • et al.
        Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
        Eur. Heart J. 2014; 35: 2146-2157
        • Berberich A.J.
        • Hegele R.A.
        The complex molecular genetics of familial hypercholesterolaemia.
        Nat. Rev. Cardiol. 2019; 16: 9-20
        • Julius U.
        Current role of lipoprotein apheresis in the treatment of high-risk patients.
        J Cardiovasc Dev Dis. 2018; 5: e27
        • Hegele R.A.
        • Tsimikas S.
        Lipid-lowering agents.
        Circ. Res. 2019; 124: 386-404
        • Gaudet D.
        • Gipe D.A.
        • Pordy R.
        • et al.
        ANGPTL3 inhibition in homozygous familial hypercholesterolemia.
        N. Engl. J. Med. 2017; 377: 296-297
        • Brahm A.J.
        • Hegele R.A.
        Chylomicronaemia—current diagnosis and future therapies.
        Nat. Rev. Endocrinol. 2015; 11: 352-362
        • Dron J.S.
        • Wang J.
        • Cao H.
        • et al.
        Severe hypertriglyceridemia is primarily polygenic.
        J Clin Lipidol. 2019; 13: 80-88
        • Dron J.S.
        • Hegele R.A.
        Genetics of triglycerides and the risk of atherosclerosis.
        Curr. Atheroscler. Rep. 2017; 19: 31
        • Hegele R.A.
        • Berberich A.J.
        • Ban M.R.
        • et al.
        Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
        J Clin Lipidol. 2018; 12: 920-927
        • Geller A.S.
        • Polisecki E.Y.
        • Diffenderfer M.R.
        • et al.
        Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
        J. Lipid Res. 2018; 59: 2421-2435
        • Kootte R.S.
        • Smits L.P.
        • van der Valk F.M.
        • et al.
        Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA.
        J. Lipid Res. 2015; 56: 703-712
        • Shamburek R.D.
        • Bakker-Arkema R.
        • Shamburek A.M.
        • et al.
        Safety and tolerability of ACP-501, a recombinant human lecithin: cholesterol acyltransferase, in a phase 1 single-dose escalation study.
        Circ. Res. 2016; 118: 73-82
        • Freeman L.A.
        • Demosky Jr., S.J.
        • Konaklieva M.
        • et al.
        Lecithin: cholesterol acyltransferase activation by sulfhydryl-reactive small molecules: role of cysteine-31.
        J. Pharmacol. Exp. Ther. 2017; 362: 306-318