[Homozygous familial hypercholesterolemia. Response to combined cholestyramine and lovastatin therapy]. 1990

I Obando Santaella, and E Fernández Gómez, and I Mongil Ruiz, and A Escobar Gallego, and J J García Alegría, and F Gascón Luna, and L Masana Marín
Servicio de Pediatría, Hospital G B de Pozoblanco, Córdoba.

Homozygous familiar hypercholesterolemia (FH) is a serious inherited disease caused by a genetic defect in the cell surface receptor that controls the degradation of low density lipoprotein (LDL). These patients often have myocardial infarction in their teens or early adulthood and are usually unresponsive to drugs. Recently it has been reported promising results using combined drugs regimens in patients with residual receptor activity. We report a new additional patient with receptor-defective homozygous FH treated with a combination of lovastatin and cholestyramine. The cholesterol levels were reduced in a 67% and there were adverse events related to treatment during a 7 month period of follow-up.

UI MeSH Term Description Entries
D008148 Lovastatin A fungal metabolite isolated from cultures of Aspergillus terreus. The compound is a potent anticholesteremic agent. It inhibits 3-hydroxy-3-methylglutaryl coenzyme A reductase (HYDROXYMETHYLGLUTARYL COA REDUCTASES), which is the rate-limiting enzyme in cholesterol biosynthesis. It also stimulates the production of low-density lipoprotein receptors in the liver. Lovastatin, 1 alpha-Isomer,Mevinolin,6-Methylcompactin,Lovastatin, (1 alpha(S*))-Isomer,MK-803,Mevacor,Monacolin K,1 alpha-Isomer Lovastatin,6 Methylcompactin,Lovastatin, 1 alpha Isomer,MK 803,MK803,alpha-Isomer Lovastatin, 1
D008297 Male Males
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002792 Cholestyramine Resin A strongly basic anion exchange resin whose main constituent is polystyrene trimethylbenzylammonium Cl(-) anion. Cholestyramine,Colestyramine,Colestyramin,Cuemid,MK-135,Quantalan,Questran,Cholestyramine Resins,Cholestyramines,Colestyramines,Colestyramins,Cuemids,MK 135,MK135,Quantalans,Questrans,Resin, Cholestyramine,Resins, Cholestyramine
D004359 Drug Therapy, Combination Therapy with two or more separate preparations given for a combined effect. Combination Chemotherapy,Polychemotherapy,Chemotherapy, Combination,Combination Drug Therapy,Drug Polytherapy,Therapy, Combination Drug,Chemotherapies, Combination,Combination Chemotherapies,Combination Drug Therapies,Drug Polytherapies,Drug Therapies, Combination,Polychemotherapies,Polytherapies, Drug,Polytherapy, Drug,Therapies, Combination Drug
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

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