Results 11 to 20 of about 5,794 (166)

Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival [PDF]

Frontiers in Cardiovascular Medicine
BackgroundFamilial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, with heterozygous FH (HeFH) affecting approximately 1 in 310 individuals.
Lukáš Zlatohlávek, Jana Becherová Beňová, Tereza Foglarová, Tereza Dudková, Jaroslav A. Hubáček, Jaroslav A. Hubáček   +5 more
doaj   +2 more sources

Intensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia [PDF]

JACC: Case Reports
We present a young boy with a diagnosis of homozygous familial hypercholesterolemia who presented with statin and ezetimibe resistance. The patient received lipoprotein apheresis at 6 years of age.
Hayato Tada, MD, Hirofumi Okada, MD, Masa-aki Kawashiri, MD, Masayuki Takamura, MD   +3 more
doaj   +2 more sources

Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia [PDF]

Indian Dermatology Online Journal
Nikhil Mehta, Gouri Anand, Anamika Choudhary, Somesh Gupta   +3 more
doaj   +2 more sources

Homozygous Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis, 2021
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance. Homozygotes of FH (HoFH) may have plasma LDL-C levels, which are at least twice as high as those of heterozygous FH ...
Nohara, Atsushi, Tada, Hayato, Ogura, Masatsune, Okazaki, Sachiko, Ono, Koh, Shimano, Hitoshi, Daida, Hiroyuki, Dobashi, Kazushige, Hayashi, Toshio, Hori, Mika, Matsuki, Kota, Minamino, Tetsuo, Yokoyama, Shinji, Harada-Shiba, Mariko   +13 more
openaire   +3 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

Lipoprotein(a) in Homozygous Familial Hypercholesterolemia [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
Abstract —Lipoprotein(a) [Lp(a)] is a quantitative genetic trait that in the general population is largely controlled by 1 major locus—the locus for the apolipoprotein(a) [apo(a)] gene. Sibpair studies in families including familial defective apolipoprotein B or familial hypercholesterolemia (FH) heterozygotes have demonstrated
H G, Kraft, A, Lingenhel, F J, Raal, M, Hohenegger, G, Utermann   +4 more
openaire   +2 more sources

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

Current Treatment Options in Homozygous Familial Hypercholesterolemia

Pharmaceuticals, 2022
Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of
Meral Kayikcioglu, Lale Tokgozoglu
doaj   +1 more source

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

Data in Brief, 2016
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age.
Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac   +3 more
doaj   +1 more source

Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis

Indian Journal of Dermatology, 2015
Homozygous familial hypercholesterolemia is an autosomal dominant disorder of lipid metabolism, characterized by reduced clearance of low-density lipoprotein-cholesterol and a high risk of rapid development of cardiovascular diseases.
Noha Mohammed Dawoud, Ola Ahmed Bakry, Iman Seleit   +2 more
doaj   +1 more source