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Dtsch Med Wochenschr 2017; 142(09): 687-688
DOI: 10.1055/s-0042-117210
Pro & Contra
© Georg Thieme Verlag KG Stuttgart · New York

Genetische Diagnostik bei familiärer Hypercholesterinämie – pro

Genetic Diagnosis in Familial Hypercholesterolemia – yes
Winfried März
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Publication History

Publication Date:
28 April 2017 (online)

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Nach der neuen europäischen Leitlinie zur kardiovaskulären Prävention sollen alle Personen unter 50 Jahren aufgrund klinischer Kriterien auf eine familiäre Hypercholesterinämie untersucht werden. Diese Kriterien sind aber weder ausreichend spezifisch noch sensitiv. Demgegenüber schafft die molekulare Diagnostik Sicherheit, Klarheit und solide Grundlagen für die Auswahl therapeutischer Optionen.

 

  • Literatur

  • 1 Talmud PJ. Shah S. Whittall R. et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013; 381: 1293-1301
    CrossrefPubMedGoogle Scholar
  • 2 Talmud PJ. Futema M. Humphries SE. The genetic architecture of the familial hyperlipidaemia syndromes. Curr Opin Lipidol 2014; 25: 274-281
    CrossrefPubMedGoogle Scholar
  • 3 Khera AV. Won HH. Peloso GM. et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016; 67: 2578-2589
    CrossrefPubMedGoogle Scholar
  • 4 Klose G. Laufs U. März W. et al. Familial hypercholesterolemia: developments in diagnosis and treatment. Dtsch Arztebl Int 2014; 111: 523-529
    PubMedGoogle Scholar
  • 5 Soutar AK. Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007; 4: 214-225
    CrossrefPubMedGoogle Scholar
  • 6 Taylor A. Wang D. Patel K. et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clinical Genetics 2010; 77: 572-580
    CrossrefPubMedGoogle Scholar
  • 7 Damgaard D. Larsen ML. Nissen PH. et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005; 180: 155-610
    CrossrefPubMedGoogle Scholar
  • 8 Futema M. Plagnol V. Li K. et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 2014; 51: 537-544
    CrossrefPubMedGoogle Scholar
  • 9 Humphries SE. Whittall RA. Hubbart CS. et al. Genetic causes of familial hypercholesterolaemia in patients in the UK. J Med Genet 2006; 43: 943-949
    CrossrefPubMedGoogle Scholar
  • 10 Goldstein JL. Hobbs HH. Brown MS. Familial Hypercholesterolemia. In: Scriver CR. Beaudet AL. Sly WS. et al. Hrsg. The Metabolic Basis and Molecular Basis of Inherited Diasease. Orlando: McGraw Hill Book Co; 1995: 1981-2030
    Google Scholar
  • 11 Reiner Z. Catapano AL. De Backer G. et al. ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2011; 32: 1769-1818
    CrossrefPubMedGoogle Scholar
  • 12 Piepoli MF. Hoes AW. Agewall S. et al. 2016 European Guidelines on cardiovascular disease prevention in clinical. Eur Heart J 2016; 37: 2315-2381
    CrossrefPubMedGoogle Scholar
  • 13 Sharma P. Boyers D. Boachie C. et al. Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia. Health Technol Assess 2012; 16: 1-266
    PubMedGoogle Scholar
  • 14 Futema M. Shah S. Cooper JA. et al. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem 2015; 61: 231-238
    PubMedGoogle Scholar
  • 15 März W. Scharnagl H. Gouni-Berthold I. et al. LDL-Cholesterol: Standards of treatment 2016: A German perspective. Am J Cardiovasc Drugs 2016; 16: 323-336
    PubMedGoogle Scholar