Results 41 to 50 of about 30,028 (235)

Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

Атеросклероз, 2022
Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that ...
Natalya G. Lozhkina, Aleksandr N. Spiridonov   +1 more
doaj   +1 more source

Familial hypercholesterolemia: A review

Annals of Pediatric Cardiology, 2014
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs).
Mithun J Varghese
doaj   +1 more source

Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia

JACC: Case Reports, 2023
Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH).
Sohum Sheth, BS, Peter P. Toth, MD, PhD, Seth J. Baum, MD, Monica Aggarwal, MD   +3 more
doaj   +1 more source

Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia. [PDF]

PLoS ONE, 2014
Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene.
Wen-Feng Wu, Li-Yuan Sun, Xiao-Dong Pan, Shi-Wei Yang, Lv-Ya Wang   +4 more
doaj   +1 more source

Variable and Severe Phenotypic Expression of the “Lebanese Allele” in Two Sisters with Familial Hypercholesterolemia

Vascular Health and Risk Management, 2021
Johnny Chahine, Sarah Kreykes, Jeremy R Van’t Hof, Daniel Duprez, Prabhjot Nijjar Cardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USACorrespondence: Prabhjot NijjarUniversity of Minnesota Medical ...
Chahine J, Kreykes S, Van't Hof JR, Duprez D, Nijjar P   +4 more
doaj  

Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy

Frontiers in Genetics, 2023
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and devastating genetic condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) leading to an increased risk of premature atherosclerosis ...
Meral Kayikcioglu, Hasan Selcuk Ozkan, Burcu Yagmur, Selen Bayraktaroglu, Asli Tetik Vardarli   +4 more
doaj   +1 more source

Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Black men and women are at higher risk for, and suffer greater morbidity and mortality from, atherosclerotic cardiovascular disease (ASCVD) compared with adults of European Ancestry (EA).
Anandita Agarwala, Nathan Bekele, Elena Deych, Michael W. Rich, Aliza Hussain, Laney K. Jones, Amy C. Sturm, Karen Aspry, Elizabeth Nowak, Zahid Ahmad, Christie M. Ballantyne, Anne C. Goldberg   +11 more
doaj   +1 more source

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Balkan Medical Journal, 2018
Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality.
Filiz Ekici, Salih Özçobanoğlu, Fırat Kardelen   +2 more
doaj   +1 more source

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype

Molecular Genetics and Metabolism Reports
Background: Familial hypercholesterolemia (FH) results in elevated LDL cholesterol, contributing to atherosclerosis and early-onset cardiovascular disease.
Mai Thi Thanh Do, Dung Chi Vu, Mai Thi Chi Tran, Thao Phuong Bui, Ngoc Thi Bich Can, Khanh Ngoc Nguyen   +5 more
doaj   +1 more source

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results?:A UK-based qualitative interview study

, 2011
OBJECTIVE: To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH). METHODS: In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a ...
Jenkins, Nick, Lawton, Julia, Douglas, Margaret, Walker, Simon, Hallowell, Nina, Finnie, Robert, Porteous, Mary   +6 more
core   +1 more source