Results 71 to 80 of about 340,370 (339)

Marked plaque regression in homozygous familial hypercholesterolemia.

Atherosclerosis, 2021
BACKGROUND AND AIMS Both plasma low-density lipoprotein (LDL) cholesterol levels and risk for premature cardiovascular disease are extremely elevated in patients with homozygous familial hypercholesterolemia (HoFH), despite the use of multiple ...
L. Reeskamp, N. Nurmohamed, M. Bom, R. Planken, R. Driessen, P. V. van Diemen, I. Luirink, J. Groothoff, I. Kuipers, P. Knaapen, E. Stroes, A. Wiegman, G. Hovingh   +12 more
semanticscholar   +1 more source

Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program

Circulation Genomic and Precision Medicine, 2022
Background: Sitosterolemia is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in ABCG5/ABCG8. The disease is characterized by increased plasma plant sterols.
M. T. Tada, V. Z. Rocha, I. Lima, T. G. Oliveira, A. P. Chacra, M. Miname, V. Nunes, E. Nakandakare, Maria Helane Costa Gurgel Castelo, C. E. Jannes, Raul D. Santos, J. Krieger, A. Pereira   +12 more
semanticscholar   +1 more source

Genetic testing for familial hypercholesterolemia—past, present, and future

Journal of Lipid Research, 2021
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as the first gene where mutations cause the familial hypercholesterolemia (FH) phenotype.
M. Futema, A. Taylor-Beadling, Maggie Williams, S. Humphries   +3 more
semanticscholar   +1 more source

Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges

Italian Journal of Pediatrics, 2022
Background It is now well established that atherosclerosis begins in childhood and evolves through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults.
G. Banderali, M. Capra, G. Biasucci, Rita Stracquadaino, C. Viggiano, C. Pederiva   +5 more
semanticscholar   +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

The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies.

PLoS ONE, 2021
Hypercholesterolemia is a clinically relevant condition with an ascertained role in atherogenesis. In particular, its presence directly correlates to the risk of atherosclerotic cardiovascular disease (ASCVD).
Pietro Ferrara, Danilo Di Laura, Paolo A Cortesi, Lorenzo G Mantovani   +3 more
doaj   +1 more source

Key Questions About Familial Hypercholesterolemia: JACC Review Topic of the Week.

Journal of the American College of Cardiology, 2022
Familial hypercholesterolemia (FH) is characterized as a monogenic, autosomal dominant disorder, producing severe hypercholesterolemia within families due to causal variants within genes regulating the low-density lipoprotein receptor pathway ...
A. Sniderman, Tamara Glavinovic, G. Thanassoulis   +2 more
semanticscholar   +1 more source

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

, 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

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
core   +1 more source

Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case

Атеросклероз, 2022
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of ...
Olga V. Timoshchenko, Dinara E. Ivanoshchuk, Sergey E. Semaev, Lyudmila D. Latyntseva, Elena V. Shakhtshneider   +4 more
doaj   +1 more source