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Diagnostic Characteristics of Familial Hypercholesterolemia in Children
Педиатрическая фармакология, 2020 Familial hypercholesterolemia is autosomal dominant hereditary disorder developing in in humans since birth and it is characterized by low-density lipoproteins concentration increase in blood.
Dinara I. Sadykova +2 more
doaj +3 more sources
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis
Circulation Genomic and Precision Medicine, 2021 Background: Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the
Gemme Campbell-Salome +2 more
exaly +2 more sources
Homozygous familial hypercholesterolemia
Indian Journal of Endocrinology and Metabolism, 2012 Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar +2 more
doaj +3 more sources
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 +2 more
doaj +2 more sources
Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia
Российский кардиологический журнал, 2023 Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows ...
Z. F. Kim +3 more
doaj +3 more sources
JAMA cardiology, 2020 Importance Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease.
K. Wilemon +88 more
semanticscholar +2 more sources
Familial hypercholesterolemia: A review
Annals of Pediatric Cardiology, 2014 Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs).
Mithun J Varghese
doaj +3 more sources
Xanthoma tuberosum in homozygous familial hypercholesterolemia
Annals 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
Thiol/Disulfide Balance in Patients with Familial Hypercholesterolemia
Cardiology Research and Practice, 2018 Objective. Herein, we investigated the balance of thiol/disulfide, with the hypothesis that the balance between disulfides and thiols, which are natural antioxidants, might be disrupted in patients with familial hypercholesterolemia, which eventually ...
Özgür Şimşek +4 more
doaj +2 more sources