Cited by 496Lipoproteins and Cardiovascular HealthLipid metabolism and disordersDiabetes, Cardiovascular Risks, and Lipoproteins

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Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

Civeira, Fernando·2004·Atherosclerosis

DOI 10.1016/j.atherosclerosis.2003.11.010

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Abstract

Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by very high plasma concentrations of low density lipoprotein cholesterol (LDLc), tendon xanthomas and increased risk of premature coronary heart disease (CHD). FH is a public health problem throughout the world. There are 10,000,000 people with FH worldwide, mainly heterozygotes, and approximately 85% of males and 50% of females with FH will suffer a coronary event before 65 years old if appropriate preventive efforts are not implemented. Early identification of persons with FH and their relatives, and the early start of treatment are essential issues in the prevention of premature cardiovascular disease (CVD) and death in this population. However, guidelines for the general population formally exclude FH from their diagnostic and treatment recommendations. These guidelines have been elaborated by a group of international experts with the intention to answer the main questions about heterozygous FH (heFH) subjects that physicians worldwide face in the diagnosis and management of these patients.

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Authors: Civeira, F.
Affiliations: Hospital Universitario Miguel Servet (ES)
Corresponding author: Civeira, Fernando
ORCID: Civeira, Fernando
Venue: Atherosclerosis
Publisher: Elsevier BV
Published: 2004-03
Volume: 173
Issue: 1
Pages: 55-68
ISSN: 0021-9150 (ISSN-L)
DOI: 10.1016/j.atherosclerosis.2003.11.010
OpenAlex: W2042489459
Cited by: 495
References: 125
Citations by year: 2026: 3 · 2025: 2 · 2024: 14 · 2023: 10 · 2022: 23 · 2021: 15 · 2020: 26 · 2019: 25 · 2018: 28 · 2017: 30 · 2016: 34 · 2015: 27 · 2014: 41 · 2013: 36 · 2012: 24
FWCI: 18.32
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Atherosclerosis (publishedVersion)
PubMed (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Pure Amsterdam UMC (submittedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
Keywords: heterozygous familial hypercholesterolemia, LDL cholesterol, coronary artery disease, cardiovascular disease prevention, diagnosis, treatment, tendon xanthomas, lipoprotein metabolism
MeSH terms: Adult, Aged, Hypolipidemic Agents, Combined Modality Therapy, Diet, Female, Heterozygote, Humans, Hyperlipoproteinemia Type II, Life Style, Male, Middle Aged, Prognosis, Severity of Illness Index, Global Health, Survival Analysis, Age Distribution, Sex Distribution, Risk Assessment

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Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

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