Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.
case_report · Level V
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- Record sourced from PubMed, PMID 8546515.
- Also identified by PMC identifier 1511462.
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Abstract
A boy with a total plasma cholesterol concentration of 20.9 mmol/l which fell significantly with a low fat diet, cholestyramine and simvastatin, was shown to have two different mutations in the low density lipoprotein receptor gene, demonstrating that some patients with homozygous familial hypercholesterolaemia show a good lipid lowering response to treatment.
Medical subject headings
- Heterozygote
- Hyperlipoproteinemia Type II