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Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement
- Publication Year :
- 2020
-
Abstract
- 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 clinical 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.
- Subjects :
- medicine.medical_specialty
Rare dyslipidaemia
Consensus
Settore MED/09 - Medicina Interna
Genotype
diagnosis
Endocrinology, Diabetes and Metabolism
MEDLINE
030209 endocrinology & metabolism
610 Medicine & health
03 medical and health sciences
0302 clinical medicine
Endocrinology
Rare Diseases
540 Chemistry
Internal Medicine
medicine
geneome sequencing
Humans
genetics
Genetic Predisposition to Disease
Rare dyslipidemias
treatment
030212 general & internal medicine
Disease management (health)
Intensive care medicine
Health policy
Dyslipidemias
10038 Institute of Clinical Chemistry
business.industry
Task force
gene therapies
Disease Management
Atherosclerosis
Phenotype
1310 Endocrinology
Europe
2712 Endocrinology, Diabetes and Metabolism
2724 Internal Medicine
Practice Guidelines as Topic
European atherosclerosis society
lipids (amino acids, peptides, and proteins)
business
Quality information
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....a18027d062ba08f27e0659134f84f629