Managing Patients With Homozygous Familial Hypercholesterolemia. 2017

Samuel S Gidding
A. I. DuPont Hospital for Children, Wilmington, Delaware. Electronic address: sgidding@nemours.org.

UI MeSH Term Description Entries
D008078 Cholesterol, LDL Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol. LDL Cholesterol,Cholesteryl Linoleate, LDL,LDL Cholesteryl Linoleate,Low Density Lipoprotein Cholesterol,beta-Lipoprotein Cholesterol,Cholesterol, beta-Lipoprotein,beta Lipoprotein Cholesterol
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006938 Hyperlipoproteinemia Type II A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). Hyperbetalipoproteinemia,Hypercholesterolemia, Essential,Hypercholesterolemia, Familial,Apolipoprotein B-100, Familial Defective,Apolipoprotein B-100, Familial Ligand-Defective,Familial Combined Hyperlipoproteinemia,Hyper-Low Density Lipoproteinemia,Hyper-Low-Density-Lipoproteinemia,Hyper-beta-Lipoproteinemia,Hypercholesterolemia, Autosomal Dominant,Hypercholesterolemia, Autosomal Dominant, Type B,Hypercholesterolemic Xanthomatosis, Familial,Hyperlipoproteinemia Type 2,Hyperlipoproteinemia Type IIa,Hyperlipoproteinemia Type IIb,Hyperlipoproteinemia, Type II,Hyperlipoproteinemia, Type IIa,LDL Receptor Disorder,Apolipoprotein B 100, Familial Defective,Apolipoprotein B 100, Familial Ligand Defective,Autosomal Dominant Hypercholesterolemia,Autosomal Dominant Hypercholesterolemias,Combined Hyperlipoproteinemia, Familial,Combined Hyperlipoproteinemias, Familial,Density Lipoproteinemia, Hyper-Low,Density Lipoproteinemias, Hyper-Low,Disorder, LDL Receptor,Disorders, LDL Receptor,Dominant Hypercholesterolemia, Autosomal,Dominant Hypercholesterolemias, Autosomal,Essential Hypercholesterolemia,Essential Hypercholesterolemias,Familial Combined Hyperlipoproteinemias,Familial Hypercholesterolemia,Familial Hypercholesterolemias,Familial Hypercholesterolemic Xanthomatoses,Familial Hypercholesterolemic Xanthomatosis,Hyper Low Density Lipoproteinemia,Hyper beta Lipoproteinemia,Hyper-Low Density Lipoproteinemias,Hyper-Low-Density-Lipoproteinemias,Hyper-beta-Lipoproteinemias,Hyperbetalipoproteinemias,Hypercholesterolemias, Autosomal Dominant,Hypercholesterolemias, Essential,Hypercholesterolemias, Familial,Hypercholesterolemic Xanthomatoses, Familial,Hyperlipoproteinemia Type 2s,Hyperlipoproteinemia Type IIas,Hyperlipoproteinemia Type IIbs,Hyperlipoproteinemia Type IIs,Hyperlipoproteinemia, Familial Combined,Hyperlipoproteinemias, Familial Combined,Hyperlipoproteinemias, Type II,Hyperlipoproteinemias, Type IIa,LDL Receptor Disorders,Lipoproteinemia, Hyper-Low Density,Lipoproteinemias, Hyper-Low Density,Receptor Disorder, LDL,Receptor Disorders, LDL,Type 2, Hyperlipoproteinemia,Type II Hyperlipoproteinemia,Type II Hyperlipoproteinemias,Type IIa Hyperlipoproteinemia,Type IIa Hyperlipoproteinemias,Xanthomatoses, Familial Hypercholesterolemic,Xanthomatosis, Familial Hypercholesterolemic
D000068718 Rosuvastatin Calcium A HYDROXYMETHYLGLUTARYL-COA-REDUCTASE INHIBITOR, or statin, that reduces the plasma concentrations of LDL-CHOLESTEROL; APOLIPOPROTEIN B, and TRIGLYCERIDES while increasing HDL-CHOLESTEROL levels in patients with HYPERCHOLESTEROLEMIA and those at risk for CARDIOVASCULAR DISEASES. Crestor,Rosuvastatin,ZD 4522,ZD4522,Calcium, Rosuvastatin

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