Endocrine Abstracts

Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific Familial dyslipidemia Unit and the effects on lipid profile in first months of treatment.

Material and methods: Data from patients with heterozygous familial hypercholesterolemia treated with PCSK9 inhibitors were reviewed. Clinical data, physical examination and analytical data were collected at baseline, one month and 3 months.

Results: Data were obtained from 13 patients, 45.5% male. Mean age: 49.5 years (26-74). Mean follow-upin our Unit:12 years. Diagnosis by DLC: 100% score higher than 6. 54.6% had been detected with family cascade screening, 45.5% cases with mutation detected in LDL-R. Initial levels in our clinic: CT: 313.5 mg/dl, TG: 102 mg/dl, LDL 228 mg/dl, HDL: 52 mg/dl, non-HDL C: 202 mg/dl, despite 45.5% had already started treatment. 72.7% had a family history of premature CVD, Diabetes 18.2%, smokers 18.2%,HTA 36.4%, high lipoprotein(a) 45.5%, early CVD 54.6%. 72.7% treated with statins (73.6% rosu and 9.1% atorvastatin) and ezetimibe. 44.4% had elevated transaminases with at least two statins and 27.3% did not tolerate any statin. Patients performed regular physical exercise (at least 180 min per week) and diet (100% BMI<30).100% of the subjects had LDL levels at least 60 mg/dl above therapeutic target. The mean pre and postreatment levels were: TC: 243.8±27.7 vs 148.5±47.4 mg/dl (P 0.01), LDL-C: 159±23.9 vs 69.9±39.3 (P 0.01), 100% in therapeutic objective, HDL-C 58.5±14.4 vs 56.6±16.1 (P 0.7), non-HDL-C 185.3±21.5 vs 91.8±32.7 (P 0.01), 100% on therapeutic target, TG 130±46.2 vs 109±54.8 (P 0.3), Apo B 136±19.9 vs 64.3±11.04 (P 0.01), lipoprotein (a) 133.1±9.9 vs 112.5±5.1 (P 0.04). Only 2 patients had mild side effect: one patient with pseudogripal syndrome that spontaneously disappeared in 2 days and another patient with injection site reaction.

Conclusion: PCSK9 inhibitors were well tolerated and significantly reduced levels of TC, LDL-C, ApoB, non-HDL C and lipoprotein a, with 100% of patients achieving therapeutic goals after 3 months of treatment.