Congenital hypercholesterolemia

hypercholesterolemia /hy·per·cho·les·ter·ol·emia/ (-ko-les″ter-ol-e´me-ah) an excess of cholesterol in the blood.hypercholesterole´mic

familial hypercholesterolemia an inherited disorder of lipoprotein metabolism due to defects in the receptor for low-density lipoprotein (LDL), with xanthomas, corneal arcus, premature corneal atherosclerosis, and a type II-a hyperlipoproteinemia biochemical phenotype with elevated plasma LDL and cholesterol.

familial hypercholesterolemia

1. See type II familial hyperlipoproteinemia.

2. See hypercholesterolemia.

familial hypercholesterolemia.

See low-density lipoprotein receptor disorder.

hypercholesterolemia [hi″per-ko-les″ter-ol-e´me-ah]

excess of cholesterol in the blood.

familial hypercholesterolemia hyperlipoproteinemia (type II).

familial hypercholesterolemia

Metabolic disease A common–
1:500 congenital AD defect in the LDL receptor gene, resulting in dysfunctional or absent receptors Clinical Early CAD in ♂, first MI by age 40–♀ may be asymptomatic throughout life, tendinous xanthomas, corneal arcus, xanthelasma; homozygotes have LDL-C > 600 mg/dL, tuberous xanthomas and fatal CAD in adolescence Lab ↑ LDL-C–300-500 mg/dL-20% of
cholesterol in this range is due to FH Management Smoking cessation, diet, exercise, drugs–bile-acid binding resins–eg, cholestipol, cholestyramine, nicotinic acid, ↓ cholesterol and ↓ saturated fat diet, liver transplant may provide LDL receptors

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amlodipine besylate and atorvastatin calcium atorvastatin calcium Beta Propeller cholesterolemia Crestor diabetic xanthoma dominant ezetimibe ezetimibe/simvastatin familial hypercholesterolemia with hyperlipemia hemapheresis hypercholesteremia hypercholesterolemia hyperlipoproteinemia Lipitor lipoproteinemia lovastatin low-density lipoprotein receptor disorder Mevacor	Congenital cystic adenomatoid malformation congenital cytomegalovirus disease congenital dacryocele congenital dermal sinus Congenital diaphragmatic hernia congenital dislocation of the hip congenital dyserythropoietic anemia congenital dysphagocytosis congenital ectodermal defect congenital epulis congenital erythropoietic porphyria congenital facial diplegia congenital generalized fibromatosis Congenital Giant Nevus congenital glaucoma congenital goiter congenital gout Congenital heart defects congenital heart disease congenital hemolytic anemia congenital hemolytic jaundice congenital hernia congenital herpes congenital hip dislocation Congenital Hip Dysplasia Congenital hypercholesterolemia congenital hypernatremia congenital hypertrophy of the retinal pigment epithelium congenital hypogammaglobulinemia congenital hypoplastic anemia congenital hypothyroidism congenital ichthyosiform erythroderma congenital immunity Congenital Insensitivity to Pain with Anhidrosis congenital jaundice congenital laryngeal stridor congenital leukemia congenital leukemoid reaction congenital lobar emphysema congenital lymphedema congenital malformation Congenital Malignancy congenital megacolon congenital myxedema congenital nevus congenital nonspherocytic hemolytic anemia congenital nystagmus congenital oculofacial paralysis congenital pancytopenia congenital paramyotonia congenital platelet function defect	Congenital Heart Surgery Congenital Heart Surgical Unit congenital hemolytic anemia congenital hemolytic jaundice congenital hemolytic jaundice congenital hemolytic jaundice congenital hemolytic jaundice Congenital hepatic fibrosis Congenital hepatic fibrosis Congenital hepatic fibrosis Congenital hepatic fibrosis Congenital Hereditary Endothelial Dystrophy congenital hereditary nystagmus congenital hereditary nystagmus congenital hereditary nystagmus Congenital Hereditary Stromal Dystrophy congenital hernia congenital herpes Congenital herpes simplex Congenital herpes simplex Congenital herpes simplex congenital hip dislocation Congenital Hip Displacement/Dislocation Congenital Hip Dysplasia Congenital hydrocephalus Congenital hydrocephalus Congenital hydrocephalus congenital hyperbilirubinemia congenital hyperbilirubinemia congenital hyperbilirubinemia Congenital hypercholesterolemia Congenital Hyperexplexia Congenital hyperinsulinism congenital hypernatremia Congenital Hyperthyroidism Congenital hypertonia Congenital hypertonia Congenital hypertonia Congenital Hypertrichosis Congenital Hypertrichosis Terminalis Congenital Hypertrophy of Retinal Pigment Epithelium Congenital Hypertrophy of the Retinal Pigment Epithelium Congenital Hypertrophy of the Retinal Pigment Epithelium Congenital Hypertropic Pyloric Stenosis Congenital Hypertropic Pyloric Stenosis Congenital Hypertropic Pyloric Stenosis Congenital Hypodontia of Maxillary Lateral Incisors congenital hypogammaglobulinemia Congenital Hypomyelinating Neuropathy congenital hypopigmentation congenital hypopigmentation Congenital Hypoplastic Anaemia congenital hypoplastic anemia congenital hypoplastic anemia congenital hypoplastic anemia congenital hypothyroid dysmaturity syndrome Congenital hypothyroidism Congenital hypothyroidism Congenital hypothyroidism Congenital hypotonia Congenital hypotonia

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