Introduction: The cause of
familial hypercholesterolemia (FH) is defect in
LDL receptor or familial defect of
apolipoprotein B-100 (FDB) or, rarely, defect in
proprotein convertase subtilisin/kexin type 9. Identification and treatment of patients with FH improves their prognosis. Our data represent retrospective analysis of 50 years of specialised care in our center. Patients and Methods: A group of 1236 FH patients (841 women, 395 men; 993 study subjects and 243 relatives; mean age 44.8 ± 16.7 years) included 154 FDB patients followed at the
Lipid Clinic of the General University Hospital in Prague since the mid-1960s to the present. Clinical diagnosis was based on the Dutch
Lipid Clinic Network Criteria. Genetic analysis was performed using PCR-RFLP to detect FDB and
apolipoprotein E (
APOE) polymorphism. Biochemical data were collected and statistically analysed. Results: At baseline, mean
LDL-C and total
cholesterol (TC) levels of all FH patients combined were 6.49 ± 1.92 mmol/L and 8.95 ± 1.95 mmol/L, respectively. Their
LDL-C levels decreased to 3.26 ± 1.57 mmol/L and TC levels to 5.43 ± 1.69 mmol/L during follow-up. In the subgroup of
LDL receptor-mediated FH (non-FDB) patients, baseline
LDL-C and TC levels of 6.61 ± 1.95 mmol/L and 9.09 ± 1.97 mmol/L declined to 3.21 ± 1.60 mmol/L and 5.39 ± 1.72 mmol/L, respectively, during follow-up. In the FDB subgroup of patients, baseline levels of
LDL-C and TC were 5.57 ± 1.46 mmol/L and 7.88 ± 1.58 mmol/L decreasing to 3.45 ± 0.24 mmol/L and 5.58 ± 1.37 mmol/L, respectively, during follow-up. Differences were also found in the effects of various
APOE isoforms on
lipid lowering. A significant decrease in
lipid parameters was observed with the E2E2
isoform whereas a minimal decrease was seen with the E4E4 and E3E3
isoforms. Conclusion: Whereas, overall, non-FDB patients had higher baseline
lipid levels, these levels declined more appreciably compared with FDB patients during follow-up. Our retrospective analysis also found different effects of
APOE isoforms on the decrease in
lipid levels.