HETEROZYGOTE FAMILIAL HYPERCHOLESTEROLEMIA – A NEW CHALLENGE FOR ENDOCRINOLOGISTS (PART 2)

Abstract

OBJECTIVE
Heterozygote familial hypercholesterolemia (HeFH) is a common genetic condition that causes high levels of low– density lipoprotein–cholesterol (LDL–C). This study aimed to determine the incidence of HeFH in a single-centre endocrinologist’s clinical practice in Riga East Clinical University Hospital (RECUH) Outpatient Clinic.

METHODOLOGY
We collected data from medical records with HeFH (E78.01) from 2019 to 2021. Based on LDL–C, Apo–B, Apolipoprotein index (Apo Index), Lipoprotein(a)–Lp(a), Homocysteine, and DLCN score points, points were divided into 2 groups: the 1st group–definitive FH; the 2nd group–probable FH.

RESULTS
From a total of 3720 patients, 136 (3.7%) patients were included, 93 (68.4%) were females. The mean age was 49.96 ± 12.09 years old. 62 patients (45.6%) were included in the first group, 74 patients (54.4%) were in the second group. Only 20 patients (14.7%) received lipid-lowering therapy initially. The pretreatment laboratory findings in the 1st group were: LDL–C 4.48 ± 1.26 mmol/L; Apo–B 116.03 ± 26.14 mg/dL; Apo Index 0.77 ± 0.21; Lp(a) 78.66 ± 61.36 mg/ dL. The laboratory findings in 2nd group were: LDL–C 4.09 ± 0.91 mmol/L; Apo–B 97.96 ±16.47 mg/dL; Apo Index 0.64 ± 0.11; Lp(a) 17.61 ± 23.36. In the 1st group, 40 (64.5%) patients received statins, 11 (17.7%) patients received statins and ezetimibe. In the 2nd group, 45 (60.8%) patients received statins, 10 (13.5%) patients received fibrates. In both groups, LDL–C, Apo–B, Apo Index, and homocysteine decreased at the end of the study (p<0.001). Lp(a) in both groups did not decrease (p=0.552;p=0.889). DLCN in the 1st group was 2.25 ± 2.0 points and 1.29 ± 1.4 points in the 2nd group.

CONCLUSION
HeFH is far more frequent than previously considered and its diagnosis and therapy must be improved.