Results 31 to 40 of about 284,051 (203)

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

Frontiers in Genetics, 2020
Homozygous familial hypercholesterolemia (HoFH) and compound heterozygous familial hypercholesterolemia (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other familial hypercholesterolemia (FH)-related genes.
Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj   +15 more
doaj   +1 more source

Assessments of Atherosclerosis and Treatment Strategies for Heterozygous Familial Hypercholesterolemia. [PDF]

J Atheroscler Thromb
Patients with familial hypercholesterolemia (FH) carry an extremely elevated cardiovascular risk because of lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C). The Japan Atherosclerosis Society (JAS) complies with the clinical guidelines of FH stipulating diagnostic criteria as well as the treatment targets based on their ...
Tada H, Harada-Shiba M.
europepmc   +4 more sources

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

FAMILIAL HETEROZYGOUS HYPERCHOLESTEROLEMIA: A CASE REPORT

Wiadomości Lekarskie, 2019
Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patients with FH are predisposed to premature development of atherosclerosis and clinically manifested forms of cardiovascular diseases, in particular coronary ...
Vyacheslav М, Zhdan, Yevdokiia М, Kitura, Maryna Yu, Babanina, Oksana Ye, Kitura, Maksym V, Tkachenko   +4 more
openaire   +2 more sources

LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives [PDF]

, 2010
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Charles Coutelle, Harbottle, R, Anna L David, Themis, M, Al-Allaf, FA, Waddington, SN, David, A, Faisal A Al-Allaf, Michael Themis, Coutelle, C, Simon N Waddington, Richard Harbottle   +11 more
core   +1 more source

Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia

Reviews in Cardiovascular Medicine, 2016
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor's ability to clear LDL particles from the circulation ...
Seth J, Baum, Daniel, Soffer, P, Barton Duell   +2 more
openaire   +2 more sources