Atherosclerosis in monogenic familial hypercholesterolemia versus polygenic hypercholesterolemia

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Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia

BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C...

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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

OBJECTIVE Next-generation sequencing technology is transforming our understanding of heterozygous familial hypercholesterolemia, including revision of prevalence estimates and attribution of polygenic effects. Here, we examined the contributions of monogenic and polygenic factors in patients with severe hypercholesterolemia referred to a specialty clinic. APPROACH AND RESULTS We applied targe...

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Carotid atherosclerosis in familial hypercholesterolemia.

Common and internal carotids have been studied by noninvasive method (echo-Doppler) in 30 normotensive patients with familial hypercholesterolemia (FH). Vascular lesions were detected in 14 patients (46%), who presented one or more lesions of different degree (between 1-15% and 16-49%). In one case, only one carotid had stenosis greater than 50%. Severity and number of stenosis were related to ...

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Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

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Familial hypercholesterolemia: A case report

Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...

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ژورنال

عنوان ژورنال: Atherosclerosis

سال: 2016

ISSN: 0021-9150

DOI: 10.1016/j.atherosclerosis.2016.07.350