期刊
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
卷 22, 期 7, 页码 849-854出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/2047487314533218
关键词
Familial hypercholesterolaemia; international guidance; adults; children; screening; diagnosis; assessment; treatment; models of care
资金
- Abbrie
- Abbott
- Aegerion
- Alnylam Pharma
- Atherotech
- Amarin Pharma
- Amgen
- AMT
- Astra Zeneca
- Astellas
- AtheroNova Inc.
- Bayer Yakuhin
- Biolab
- Boehringer Ingelheim
- Bristol-Myers Squibb
- Catabasis Pharma
- Cedus
- Cerenis Therapeutics SA
- CSL Behring LLC
- Danone
- Dezima
- Eli Lilly
- Forbion Capital Partners Inc.
- Gedeon-Richter
- Genentech
- Genfit
- Genzyme
- Glaxo-Wellcome
- GlaxoSmithKline
- Hoffman-La Roche
- Isis Pharma
- INC Research LLC
- Janssen
- Kaken Pharma
- Kinemed
- Kissei Pharma
- Kowa
- Kyowa Medex
- Lilly
- Liposcience
- LPS Advisor Inc.
- Medpace Inc.
- Menarini
- Merck Seron
- Merck Sharp Dohme
- Mochida Pharma
- Novartis
- Omthera Pharma
- Ono Pharma
- Otsuka
- Pfizer
- Pronova Biopharma Norge A.S.
- Ranbaxy
- Randox
- Regeneron Pharma
- Resverlogix
- Roche
- Sanofi
- Servier
- Siemens
- Shionogi
- Sticares Cardiovascular Research Foundation
- Synexus Ltd
- Takeda
- Teijin
- Vascular Research Network
- Medicines Company
- UniQure Inc.
- Vascular BioGenics Ltd
- Xenon Pharma
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.
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