Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

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Hegele R. A., Boren J., Ginsberg H. N., Arca M., Averna M., Binder C. J., ...Daha Fazla

LANCET DIABETES & ENDOCRINOLOGY, cilt.8, sa.1, ss.50-67, 2020 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 8 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/s2213-8587(19)30264-5
  • Dergi Adı: LANCET DIABETES & ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.50-67
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical dinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of quality information regarding the prevalence and outcomes of these conditions. Collaborative registries are needed to improve health policy for the care of patients with rare dyslipidaemias.