Endocrine Abstracts

Background: Heterozygote familial hypercholesterolemia (HeFH) is a common genetic disorder resulting in high low–density lipoprotein–cholesterol (LDL–C) levels. It has been established that only 3% of patients (pts) among the Latvian population were diagnosed in 2019. The early HeFH diagnosis and treatment can prevent premature cardiovascular complications and save lives. Aim. The study aimed to determine the incidence of HeFH in a single-centre endocrinologist’s clinical practice in Riga East Clinical University Hospital Outpatient Clinic. Methods. We collected three years of data from medical records with HeFH (ICD-10 code E78.01) from January 2019 to December 2021. Based on LDL–C, Apo B, Apolipoprotein index (Apo Index), Lipoprotein (a) (Lp (a)), and using the Dutch Lipid Clinic Network criteria; all pts were divided into two groups: group Nr.1 – definitive FH; group Nr.2 – probable FH. Statistical analysis was conducted using IBM SPSS. Results. Altogether, there were 3720 pts in an endocrinologist’s practice, from which 129 (3.47%) pts were included, 39 (30.2%) males and 90 (69.8%) females. The mean age was 49.8±12.3SD years. 58 pts (45.0%) were included in the first group, and 71 pts (55.0%) were included in the second group. Only 18 pts (14%) received lipid-lowering therapy initially. The laboratory findings in the first group before the treatment were: LDL–C 4.49 mmol/l (±1.29SD); Apo B 117.52 mg/dl (±25.11SD); Apo Index 0.79 (±0.20SD); Lp (a) 82.76 mg/dl (±62.06SD). The laboratory findings in the second group before the treatment were: LDL–C 4.12 mmol/l (±0.90SD); Apo B 98.22 mg/dl (±16.51SD); Apo Index 0.64 (±0.12SD); Lp (a) 17.47 (±23.90SD). In the first group, 36 (62.1%) pts received statin therapy, 10 (17.2%) – combination therapy with statins and ezetimibe, 6 (10.3%) pts – fibrates, 1 (1.7%) pt – combination therapy with statins and fibrate, 3 (5.2%) pts refused treatment. However, in the second group, 50 (70.4%) pts received statin therapy, 10 (14.1%) pts – fibrates, 3 (4.2%) pts – combination therapy with statins and fibrates. In both groups, we found out that LDL–C, Apo B, Apo Index decreased at the end of the study (P=0.272 and P=0.499). Conclusion. Study data suggest that HeFH is much more common than generally thought. The lipid-lowering therapy decreased LDL–C, Apo B, Apo Index. Medication use reflects the extent of underdiagnosis and undertreatment of HeFH in the community and primary and secondary care.