Results 21 to 30 of about 30,354 (250)

Homozygous Familial Hypercholesterolemia in Canada

JACC: Advances, 2023
Background Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease characterized by very high levels of low-density lipoprotein cholesterol (LDL-C).
Leslie Brown, Isabelle Ruel, Alexis Baass, Jean Bergeron, Liam R. Brunham, Lubomira Cermakova, Patrick Couture, Daniel Gaudet, Gordon A. Francis, Robert A. Hegele, Iulia Iatan, G.B. John Mancini, Brian W. McCrindle, Thomas Ransom, Mark H. Sherman, Ruth McPherson, Jacques Genest   +16 more
openaire   +2 more sources

New approaches in detection and treatment of familial hypercholesterolemia [PDF]

, 2015
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations
Hartgers, ML, Hovingh, GK, Ray, KK
core   +9 more sources

Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database. [PDF]

JACC Asia, 2023
Background The studies evaluating patients’ characteristics and lipid-lowering therapy for patients with homozygous familial hypercholesterolemia (HoFH) are scarce. Objectives This study aims to evaluate the characteristics of and treatments for patients
Takeji Y, Tada H, Ogura M, Nohara A, Kawashiri MA, Yamashita S, Harada-Shiba M, Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labor, and Welfare of Japan.   +9 more
europepmc   +2 more sources

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

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States. [PDF]

Glob Heart
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol ...
Gidding SS, Ballantyne CM, Cuchel M, de Ferranti S, Hudgins L, Jamison A, McGowan MP, Peterson AL, Steiner RD, Uveges MK, Wang Y.   +10 more
europepmc   +2 more sources

Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia

Circulation, 2023
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels due to profoundly defective LDL receptor (LDLR) function.
MD PhD Albert Wiegman, MD PhD Albert Wiegman, MD Susanne Greber-Platzer, PharmD Shazia Ali, MD M. Doortje Reijman, MD Eliot A Brinton, MD Min-Ji Charng, PhD Shubha Srinivasan, PhD Carissa Baker-Smith Md, Mph Seth Baum Md, MD Julie A. Brothers, MD Jacob Hartz, M. P. M. Md, MD Jeanne Mendell, Mph Sébastien Bihorel PhD, P. Banerjee, PhD Richard T. George, MD Boaz Hirshberg, MD Robert Pordy   +18 more
semanticscholar   +1 more source

Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

Clinical Case Reports, 2023
Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid
Amal Chamli, Anissa Zaouak, Refka Frioui, Samy Fenniche, Houda Hammami   +4 more
doaj   +1 more source

Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial

Circulation, 2023
BACKGROUND: Homozygous familial hypercholesterolemia is a genetic disease characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular events.
F. Raal, R. Durst, Ran Bi, Z. Tallóczy, Pierre Maheux, Anastasia Lesogor, John P. Kastelein   +6 more
semanticscholar   +1 more source

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2023
Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment‐resistant disorder characterized by early‐onset atherosclerotic and aortic valvular cardiovascular disease if left untreated.
M. Cuchel, Paul C Lee, L. Hudgins, P. Duell, Z. Ahmad, S. Baum, M. Linton, S. D. de Ferranti, C. Ballantyne, J. Larry, L. Hemphill, I. Kindt, S. Gidding, S. Martin, P. Moriarty, Paul Thompson, James A Underberg, J. Guyton, Rolf L. Andersen, D. Whellan, I. Benuck, J. Kane, K. Myers, William Howard, D. Staszak, Allison Jamison, Mary C Card, M. Bourbon, J. Chora, D. Rader, J. Knowles, K. Wilemon, M. McGowan   +32 more
semanticscholar   +1 more source

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia

BMC Medicine, 2023
Background Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease ...
Zhiyong Du, Fan Li, Long Jiang, Linyi Li, Yunhui Du, Huahui Yu, Yan Luo, Yu Wang, Haili Sun, Chaowei Hu, Jianping Li, Ya Yang, Xiao-lu Jiao, Luya Wang, Yanwen Qin   +14 more
semanticscholar   +1 more source