Japanese Sisters Associated with Pseudohomozygous Familial Hypercholesterolemia and Sitosterolemia

Pseudohomozygous familial hypercholesterolemia is a rare condition of unknown etiology. Sitosterolemia is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, cutaneous xanthomas, and increased plasma plant sterols and 5a-stanols. Only a few cas...

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Bibliographic Details
Published in:Journal of Atherosclerosis and Thrombosis 2000, Vol.7(1), pp.33-38
Main Authors: Yoshida, Akihiro, Naito, Michitaka, Miyazaki, Kiyoshi
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Cholesterol, Dietary - pharmacology
Cutaneous xanthoma
Diet therapy
Diet, Fat-Restricted
Female
Heterozygote
Homozygote
Humans
Hyperlipoproteinemia Type II - etiology
Hyperlipoproteinemia Type II - therapy
Infant
Inheritance
Japan
Lipid Metabolism, Inborn Errors - etiology
Lipid Metabolism, Inborn Errors - therapy
Lipids - blood
Male
Pedigree
Plant sterol
Sitosterols - blood
Xanthomatosis - therapy
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Summary:Pseudohomozygous familial hypercholesterolemia is a rare condition of unknown etiology. Sitosterolemia is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, cutaneous xanthomas, and increased plasma plant sterols and 5a-stanols. Only a few cases of both sitosterolemia and pseudohomozygous familial hypercholesterolemia have been reported. In this study, we report two sisters with both conditions. With a low-cholesterol diet (
ISSN:1340-3478
1880-3873
DOI:10.5551/jat1994.7.33