Results 1 to 10 of about 284,051 (203)

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

Therapeutic Low-Density Lipoprotein Cholesterol-Lowering in a Patient With Familial Hyperlipidemia Refractory to PCSK9 Monoclonal Antibody (Evolocumab)

Annals of Internal Medicine: Clinical Cases, 2023
Patients with heterozygous familial hypercholesterolemia if untreated are at increased risk for atherosclerotic cardiovascular disease events by age 40 years.
Stephanie Skove, Viet T. Le, Jeffrey L. Anderson   +2 more
doaj   +1 more source

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Biomedicines, 2022
Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease.
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli   +2 more
doaj   +1 more source

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning

Вавиловский журнал генетики и селекции, 2023
One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hyper-cholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the ...
D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider   +4 more
doaj   +1 more source

Real‐World Effectiveness of PCSK9 Inhibitors in Reducing LDL‐C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Information on the real‐world use of proprotein convertase subtilisin kexin 9 inhibitors (PCKS9is) in familial hypercholesterolemia are limited.
Marcello Arca, Simone Celant, Pier Paolo Olimpieri, Antonietta Colatrella, Luca Tomassini, Laura D'Erasmo, Maurizio Averna, Alberto Zambon, Alberico Luigi Catapano, Pierluigi Russo   +9 more
doaj   +1 more source

The panorama of familial hypercholesterolemia in Latin America: a systematic review[S]

Journal of Lipid Research, 2016
The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA statement)
Roopa Mehta, Rafael Zubirán, Alexandro J. Martagón, Alejandra Vazquez-Cárdenas, Yayoi Segura-Kato, María Teresa Tusié-Luna, Carlos A. Aguilar-Salinas   +6 more
doaj   +1 more source

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

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

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