Results 11 to 20 of about 286,443 (160)

Xanthoma tuberosum in homozygous familial hypercholesterolemia

open access: yesAnnals of Pediatric Cardiology, 2014
Familial homozygous hypercholesterolemia is one of the high risk factors that can result in premature coronary arterial disease leading to severe morbidity and premature death in children and young adults. We describe a rare example of extensive xanthoma
Nagaraja Moorthy   +3 more
doaj   +2 more sources

Homozygous familial hypercholesterolemia associated with symmetric subcutaneous lipomatosis

open access: yesIndian 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   +2 more
doaj   +2 more sources

Homozygous familial hypercholesterolemia with valvulopathy

open access: yesJournal of Clinical and Preventive Cardiology, 2019
Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipid metabolism. The occurrence of its homozygous form is rare. This is a case of a young girl who presented with syncope and was found to have multiple tuberous xanthomas
Ashokan Nambiar   +3 more
doaj   +2 more sources

Current Treatment Options in Homozygous Familial Hypercholesterolemia

open access: yesPharmaceuticals, 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   +2 more sources

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

open access: yesBalkan Medical Journal, 2018
Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality.
Filiz Ekici   +2 more
doaj   +2 more sources

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

open access: yesData 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   +3 more
doaj   +2 more sources

Homozygous familial hypercholesterolemia: A rare case report

open access: yesIndian Journal of Paediatric Dermatology, 2018
A 9-year-old male child presented with asymptomatic skin-colored-to-yellowish nodules over both the buttocks, feet, and over the right Achilles' tendon for 4 years.
Shashikant Malkud   +3 more
doaj   +2 more sources

Spectrum of cardiovascular manifestations in homozygous familial hypercholesterolemia

open access: yesJournal of Marine Medical Society, 2023
Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature ...
Nitin Bajaj   +3 more
doaj   +2 more sources

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment [PDF]

open access: yesМедицинский совет, 2018
Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life ...
V. К. Zafiraki   +4 more
doaj   +2 more sources

Clinical Benefits Associated With Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Homozygous familial hypercholesterolemia (HoFH), characterized by extremely elevated low‐density lipoprotein cholesterol (LDL‐C) due to severely impaired LDL‐C clearance from circulation, remains challenging to treat.
M. D. Reijman   +15 more
doaj   +2 more sources

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