Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.

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 < 18 years) and compared patients with a pathogenic mutation with those without an identified pathogenic mutation.

Results

We

SUBMITTER: Seguro F 

PROVIDER: S-EPMC6489920 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature