familial hypercholesterolemia: a case report
Authors
abstract
familial hypercholesterolemia (fh) is a hereditary dislipidemia. patients present with extremely high level of low-density lipoprotein cholesterol (ldl-c), which is due to mutation in the gene of ldl receptor. homozygous patients (hofh) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. in homozygous individuals cardiovascular complications can occur in childhood. the current study presented a 12-year-old boy with hofh who suffered from mild aortic stenosis, and right coronary artery atherosclerosis. the patient underwent a successful coronary artery stenting, and was discharged with pharmacologic therapy.
similar resources
Familial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
full textFamilial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
full textHomozygous familial hypercholesterolemia: Case report and review of literature
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early at...
full textFamilial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
full textMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
full textFamilial hypertriglyceridemia-induced acute necrotizing pancreatitis: A case report
Acutepancreatitis can infrequently be a life-threatening complication of hypertriglyceridemia. Rarely, hypertriglyceridemia can originate from an inborn genetic error in lipoproteins metabolism. This condition can be manifested by very high serum triglyceride levels (>1000 mg/dl) and a more severe and lethal form of pancreatitis. Here, we present a case of acute pancreatic which was found out t...
full textMy Resources
Save resource for easier access later
Journal title:
مجله بین المللی کودکان و نوجوانانجلد ۲، شماره ۳، صفحات ۲۵-۲۸
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023