Results 131 to 140 of about 5,794 (166)

Homozygous Familial Hypercholesterolemia

New England Journal of Medicine, 1999
Figure 1. A 39-year-old man with homozygous familial hypercholesterolemia because of a G→C mutation at the acceptor-splice site of intron 7 of the low-density lipoprotein (LDL) receptor had undergone coronary-artery bypass grafting at the age of 29 years and carotid endarterectomy at the ages of 38 and 39 years.
Jacques Genest, Marc-André Lavoie
openaire   +1 more source

Pregnancy in homozygous familial hypercholesterolemia—A case series

Therapeutic Apheresis and Dialysis, 2022
AbstractIntroductionFamilial hypercholesterolemia (FH) is an autosomal codominant lipid metabolism disorder. It results in lifelong elevation of plasmatic low‐density lipoprotein cholesterol (LDL‐C) levels, followed by premature atherosclerosis. In women, pregnancy and lactation represent an additional risk due to association of physiological changes ...
Milan Bláha, Kateřina Veletová, Vladimír Blaha, Miriam Lánská, Pavel Žák   +4 more
openaire   +2 more sources

Characteristics of homozygous familial hypercholesterolemia in Spain

Atherosclerosis, 2016
Genetic, Omics And In Silico Approaches.
Sánchez Hernández, Rosa M., Stef, M., Perez-Calahorra, S., Almagro, F., Saenz-Aranzubia, P., Plana Gil, Núria, Real Collado, Jose Tomas, Blanco-Vaca, Francisco, Ascaso Gimilio, Juan Francisco, Civeira Murillo, Fernando, Pocovi Mieras, Miguel   +10 more
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Arthritis in a patient with homozygous familial hypercholesterolemia

Pediatrics International, 1997
AbstractFamilial hypercholesterolemia is a disorder of lipoprotein metabolism characterized by elevated cholesterol, low‐density lipoprotein cholesterol, xanthomas and early onset atherosclerosis. Tendinitis and arthritis have been reported in patients with familial hypercholesterolemia.
F, Genel, F, Atlihan, M, Bak, S, Targan, C, Dizdarer   +4 more
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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

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
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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

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
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The Lifelong Burden of Homozygous Familial Hypercholesterolemia

Canadian Journal of Cardiology, 2019
Homozygous familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor gene. It is diagnosed in children or youth who present with extensive tendinous and cutaneous xanthomas and extreme elevation of low-density lipoprotein cholesterol.
Ambuja Banerjee, Latifah Alothman, Patrick Couture, Jean Bergeron, Alexandre M. Bélanger, Isabelle Ruel, Jacques Genest   +6 more
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Novel Therapeutic Strategies for the Homozygous Familial Hypercholesterolemia

Recent Patents on Cardiovascular Drug Discovery, 2013
HoFH is an autosomal co-dominant disease with a prevalence of one in 1,000,000. Mutations of LDL-R gene are responsible for this disease. HoFH needs to be distinguished from autosomal recessive hypercholesterolemia protein (ARH) that causes a similar clinical phenotype. HoFH induces aggressive cardiovascular disease that can develop from birth.
G. Mombelli, C. Pavanello
openaire   +2 more sources