Familial hypercholesterolemia: mechanism of inheritance.

Abstract

We have studied a large family of 95 members with a defect in the metabolism of cholesterol, which is transmitted through three generations. The following characteristics of the family support the classification of the disorder as familial hypercholesterolemia : hypercholesterolemia, increased levels of phospholipids an beta-lipoproteins, normal values of triglycerides, pre-beta-lipoproteins and blood sugar, xanthomas, xanthelasmas, corneal arcus and early appearance of ischemic heart disease. Segregation analyses of the hypercholesterolemia and the findings of a bimodal distribution of total plasma cholesterol in the family suggest a monogenic autosomal dominant mechanism of transmission of this lipid disorder.

• Authors: M de Oya, J Nuno, A G Azpeitia, J G Villasante
• Journal: Diabete & metabolisme (Diabete Metab) Vol. 6 Issue 3 Pg. 181-8 (Sep 1980) ISSN: 0338-1684 [Print] France
• PMID: 7439491 (Publication Type: Journal Article)

Chemical References

• Lipoproteins, LDL
• Lipoproteins, VLDL
• Phospholipids
• Triglycerides
• Cholesterol

Topics

• Adolescent
• Adult
• Aged
• Child
• Child, Preschool
• Cholesterol (blood)
• Coronary Disease (complications)
• Female
• Humans
• Hyperlipoproteinemia Type II (blood, complications, genetics)
• Infant
• Lipoproteins, LDL (blood)
• Lipoproteins, VLDL (blood)
• Male
• Middle Aged
• Pedigree
• Phospholipids (blood)
• Triglycerides (blood)
• Xanthomatosis (complications)