Endocrine Abstracts

JOINT1128

: Familial hypercholesterolemia (FCH) is a hereditary disease that presents with elevated LDL, xanthomas and early coronary heart disease. Genetic tests are not essential for the diagnosis of FH but are useful to assess cardiovascular risk and response to treatment regardless of LDL levels. Our main objective is to describe the genetic findings in the patients studied and describe the clinical, analytical and treatment characteristics in people with hypercholesterolemia with a genetic study performed, as well as the comparison of the same among those in which genetic variants of HCF are detected. and not those who don’t.

Material and Methods: Observational, cross-sectional and analytical study in which all patients with hypercholesterolemia in whom a genetic study of HCF has been performed in 5 hospital centers in the province are collected. For genetic diagnosis, next-generation sequencing (NGS) techniques were used, which include the genes LDLR, APOB, PCSK9, APOE, LDLRAP1 and LIPA. Clinical, analytical and therapeutic data were collected from the patients. Statistical inference is performed using Student’s t-test for comparison of means and Chi-square for comparison of proportions between groups. A statistically significant difference is considered with a p-value less than 0.05.

Results: 117 patients were included, with a mean age of 11.66+/-3.64 years and a mean BMI of 19.14+/-4.91. The most reported gene was LDLR (53 patients; 76.8%) followed by APOB (9 patients; 13%). The average total cholesterol is 259.61 60.82 mg/dl with an average LDL cholesterol of 186.68 64.52 mg/dl. In the group of patients with positive genetics, the mean LDL cholesterol is 210.87 66.94 mg/dl while in the control group it is 151.17 40.21 mg/dl (p < 0.01). Of the total sample, 71 (60.7%) received lipid-lowering treatment, being more frequent in patients with positive genetics (71% vs. 45.9%) (P =0.02), in addition, 12 patients had a combination of > 2 drugs (16.9%), all of them belonging to the group with positive genetics. The most commonly used drugs are atorvastatin and rosuvastatin. No statistically significant differences were observed in LDL levels after starting treatment in both groups, although the mean reduction in LDL levels was greater in the group with positive genetics (99.15 78.92 mg/dl vs. 50. 05 40.25 mg/dl).

Conclusions: • Total and LDL cholesterol levels were higher in the group with positive genetics findings. • In patients with positive genetics we observed a greater proportion of lipid-lowering treatment as well as a greater combination of them.