Results 211 to 220 of about 30,354 (250)

Homozygous familial hypercholesterolemia: Summarized case reports

Atherosclerosis, 2017
Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder with potential severe atherosclerosis in the pediatric age.We report on 9 patients with hoFH, who had been diagnosed within the last 30 years and who were consequently treated with apheresis and drugs.Two deaths occurred: one at age 36 years and the other at age four and a half ...
Kurt, Widhalm, Ina Michel, Benke, Michael, Fritz, Harald, Geiger, Oliver, Helk, Maria, Fritsch, Gregor, Hoermann, Gerhard, Kostner   +7 more
openaire   +2 more sources

Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia

Arteriosclerosis, Thrombosis and Vascular Biology
BACKGROUND: Patients with homozygous familial hypercholesterolemia (HoFH) remain at very high cardiovascular risk despite the best standard of care lipid-lowering treatment.
S. Béliard, Samir Saheb, Stéphanie Litzler-Renault, A. Vimont, René Valéro, É. Bruckert, M. Farnier, Antonio Gallo   +7 more
semanticscholar   +1 more source

Aortic Hypoplasia in Homozygous Familial Hypercholesterolemia

The American Journal of Cardiology, 1998
Diagnosis of hypoplastic aortic root with ultrafast computed tomography provides important clinical information in homozygous familial hypercholesterolemic patients with supravalvular aortic stenosis.
E, Jones, I M, Feuerstein, E, Tucker, R M, Summers, T L, Spray, J M, Hoeg   +5 more
openaire   +2 more sources

Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia

Expert Opinion on Biological Therapy, 2022
Introduction Familial hypercholesterolemia is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) since birth and an exceedingly high risk of premature cardiovascular disease, especially in the homozygous ...
A. Pirillo, A. Catapano
semanticscholar   +1 more source

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA

Canadian Journal of Cardiology, 2021
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is an orphan disease characterized by extremely high levels of plasma levels of LDL-C. Affected patients develop clinical atherosclerotic cardiovascular disease (ASCVD) in youth and survival > 30 years of age was unusual until the advent of medications (statins) and extracorporeal LDL ...
L Brown, I Ruel, A Bélanger, P Couture, J Bergeron, M Sherman, G Francis, L Cermakova, G Mancini, L Brunham, R Hegele, J Genest   +11 more
openaire   +1 more source

Improved lipid-lowering treatment and reduction in cardiovascular disease burden in homozygous familial hypercholesterolemia: The SAFEHEART follow-up study.

Atherosclerosis
AIM We aimed to describe clinical and genetic characteristics, lipid-lowering treatment and atherosclerotic cardiovascular disease (ASCVD) outcomes over a long-term follow-up in homozygous familial hypercholesterolemia (HoFH).
R. Alonso, R. Arroyo-Olivares, J. Díaz-Díaz, F. Fuentes-Jiménez, Francisco Arrieta, R. de Andrés, P. González-Bustos, R. Argueso, Mercedes Martín-Ordiales, C. Martínez-Faedo, F. Illán, P. Sáenz, José María Donate, J. S. Sanchez Muñoz-Torrero, S. Martínez-Hervás, P. Mata   +15 more
semanticscholar   +1 more source

Xanthomas Associated with Homozygous Familial Hypercholesterolemia

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2009
An 18-year-old African-American female was diagnosed with homozygous familial hypercholesterolemia (HFH) during early childhood. Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands. Both tendinous and tuberous xanthomas may occur in patients with HFH.
Daniel M, Riche, Honey E, East
openaire   +2 more sources

Multimodal Treatment of Homozygous Familial Hypercholesterolemia

Current Pharmaceutical Design, 2019
Background: Familial Hypercholesterolemia (FH) is an autosomal-dominant genetic disease, associated with premature atherosclerotic Cardiovascular Disease (CVD), especially in its homozygous type (HoFH). Objective: The aim of this review is to discuss the safety and efficacy of combination treatments (procedures and drugs) for HoFH.
Thomas, Gossios, Ioanna, Zografou, Veta, Simoulidou, Athina, Pirpassopoulou, Konstantinos, Christou, Asterios, Karagiannis   +5 more
openaire   +2 more sources

Health-related quality of life in homozygous familial hypercholesterolemia: A systematic review and meta-analysis.

Journal of Clinical Lipidology, 2021
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease characterized by extreme elevations of low-density lipoprotein cholesterol (LDL-C) and extremely premature atherosclerotic cardiovascular disease.
Latifah Alothman, A. Bélanger, I. Ruel, L. Brunham, Lindsey Hales, J. Genest, L. Akioyamen   +6 more
semanticscholar   +1 more source

Homozygous Familial Hypercholesterolemia and Its Management

Seminars in Vascular Medicine, 2004
Mutations in the low-density lipoprotein (LDL) receptor gene cause familial hypercholesterolemia. In homozygous familial hypercholesterolemia, both genes for the LDL- receptor are mutated and LDL levels are markedly elevated. High-density lipoprotein cholesterol concentration is often reduced and lipoprotein(a) levels are high when corrected for ...
Adrian David, Marais, Jean Catherine, Firth, Dirk Jacobus, Blom   +2 more
openaire   +2 more sources