Back to Search
Start Over
Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency.
- Source :
-
Internal medicine (Tokyo, Japan) [Intern Med] 1998 Jun; Vol. 37 (6), pp. 523-7. - Publication Year :
- 1998
-
Abstract
- A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine a possible point mutation. The normal sequence was partially preserved, and the patient was genetically diagnosed as a heterozygote of FH. In addition, screening for two cholesteryl ester transfer protein (CETP) gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutations for atherosclerotic ailments was genetically ascertained.
- Subjects :
- Adult
Cholesterol Ester Transfer Proteins
Female
Heterozygote
Humans
Hyperlipoproteinemia Type II blood
Lipids blood
Male
Pedigree
Point Mutation
Receptors, LDL genetics
Carrier Proteins genetics
Carrier Proteins metabolism
Cholesterol Esters metabolism
Glycoproteins
Hyperlipoproteinemia Type II genetics
Hyperlipoproteinemia Type II metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0918-2918
- Volume :
- 37
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Internal medicine (Tokyo, Japan)
- Publication Type :
- Academic Journal
- Accession number :
- 9678686
- Full Text :
- https://doi.org/10.2169/internalmedicine.37.523