Chapter 5. Results

Table of Contents
5.1. Detection of FH Helsinki by polymerase chain reaction
5.2. Catabolism of LDL
5.3. Association of the apo B structure with plasma cholesterol metabolism
5.4. Apolipoprotein E
5.5. Cholesteryl ester transfer protein
5.6. Lipoprotein(a)
5.7. Coronary artery disease
5.8. Treatment of hyhpercholesterolemia

5.1. Detection of FH Helsinki by polymerase chain reaction

Plasma lipids and the presence of tendon xanthomata in patients with or without the FH-Helsinki mutation detected by the PCR method are shown in Table 5-1. Out of the 37 patients in the FH group, 30 had tendon xanthomata. The FH-Helsinki mutation was present in 25 (23%) of the 110 patients, 23 of whom had clinically confirmed FH.

Table 5-1. Plasma lipids and presence of tendon xanthomata in patients with or without the FH-Helsinki mutation.

 FH patients Non-FH patients
FH-Helsinki+FH-Helsinki-FH-Helsinki+FH-Helsinki-
No.of patients2314 271
Xanthomata83%(19)79%(11)(0)(0)
Cholesterol10.10±1.599.44±0.809.378.78±0.59
LDL cholesterol8.24±1.457.47±0.957.546.37±0.68
HDL cholesterol1.26±0.301.33±0.231.501.65±0.47
Triglycerides1.35±0.621.44±0.490.701.71±0.76