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Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk
- Source :
- Clinical cardiology. 41(3)
- Publication Year :
- 2017
-
Abstract
- BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disease associated with premature coronary heart disease (CHD). Studies tend to show that patients with FH associated with an identified mutation (mutation+ FH) are at higher risk than patients without an identified mutation (mutation– FH). We compared the clinical and biological profile and the risk of CHD in patients with mutation+ FH and mutation– FH. HYPOTHESIS: In addition to LDL‐C, a pathogenic mutation predicts premature CHD in FH. METHODS: We successively included all patients with suspected FH (LDL‐C > 190 mg/dL if age > 18 years; LDL‐C > 160 mg/dL if age
- Subjects :
- Adult
Male
medicine.medical_specialty
DNA Mutational Analysis
Clinical Investigations
Coronary Disease
Familial hypercholesterolemia
030204 cardiovascular system & hematology
Gastroenterology
Risk Assessment
Hyperlipoproteinemia Type II
03 medical and health sciences
0302 clinical medicine
Risk Factors
Internal medicine
Medicine
Humans
In patient
030212 general & internal medicine
Genetic Testing
Prospective Studies
medicine.diagnostic_test
business.industry
Pathogenic mutation
Incidence
Autosomal dominant trait
General Medicine
Cholesterol, LDL
DNA
Middle Aged
medicine.disease
Coronary heart disease
Mutation (genetic algorithm)
Mutation
Female
France
Cardiology and Cardiovascular Medicine
business
Genetic diagnosis
Lipid profile
Follow-Up Studies
Subjects
Details
- ISSN :
- 19328737
- Volume :
- 41
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Clinical cardiology
- Accession number :
- edsair.doi.dedup.....5e1685865cf585fd7272be366731d198