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A real-world setting study of Familial hypercholesterolemia (FH) patients which received PCSK9 inhibitors in a specialized referral center in Mexico City. Ten patients between the age of 18-70 years and a diagnosis of FH according to DLCN criteria with failure to achieve LDL-C goals with standard therapy between 2016 and 2017 enrolled in a simple randomization in which a group of five participants received alirocumab (75 mg every two weeks) and the remaining five patients evolocumab (140 mg every two weeks). Comparative analysis was made analyzing the means of LDL at the baseline, at 4, 6, and 12 weeks. The evolocumab group had an average initial LDL-C of 277 mg/dL which, after 12 weeks of treatment, was significantly reduced to 116 mg/dL; p= 0.04 (IC95 11.5-310.9). The alirocumab group with a mean initial LDL-C of 229 mg/dL showed a reduction at 12 weeks of treatment to 80 mg/dL; p= 0.008 (IC95 63.8-233.7). In conclusion, PCSK9 inhibitors are an excellent treatment option in patients with FH who do not reach LDL-C goals with standard therapy or due to intolerance. There is no difference in the lipid-lowering effect between both PSCK9 inhibitors.

Objetivo: Demostrar que el uso de programas y clínicas especializadas son útiles para ayudar a pacientes con enfermedades crónicas. Material y métodos: Se lograron implementar 9 consultorios de atención médica de la siguiente forma, 2 de Endocrinología, 3 consultorios de Clínica de Enfermedades Crónicas, uno de educación en diabetes e hipertensión, así como 3 de apoyo nutricional. Se midió valores absolutos del número de consultas durante los años 2017, 2018, 2019 y parte del 2020. Resultados y discusión: Estos modelos no solo son un beneficio para los pacientes, médicos generales tanto militares como profesionales de la salud civiles son capacitados para enfrentar estos padecimientos prevalentes en nuestro país.

We report on the case of an 8-year-old Mexican male, with a 3-year-old clinical diagnosis of familial hypercholesterolemia, and the difficulties encountered in his treatment while in our care. His treatment started with a regimen consisting of ezetimibe/simvastatin, cholestyramine, and a dietary plan of 1600 calories, with a limited intake of 200 mg of cholesterol per day. Problems arose when the patient’s low-density lipoprotein cholesterol (LDL) levels did not meet ideal targets, which prompted the use of LDL cholesterol apheresis (not available in Mexico) for 6 months. As a last resort, PCSK9 inhibitors were administered but the LDL levels remained in the 600 mg/dL range. AmbryGenetics conducted a genetic test employing the Sanger method. The results suggested that there were 2 different mutations for each allele of the same LDL receptor gene (c.249delTinsGG and p.(Cys109Arg)), located in exons 3 and 4, respectively. We identified compound heterozygous mutations in our index case, with him having both the p.C109R mutation (from the maternal lineage), as well as a c.249delTinsGG mutation (from the paternal lineage). The p.C109R mutation has been previously reported, not only in Mexico, but in European regions (Germany, Czech Republic, Ireland, Italy) as well. Functional studies indicated a residual enzymatic activity of 15% to 30% for heterozygotes. To date, the variant c.249delTinsGG has not been reported. This case study illustrates the fact that in Mexico there are limited options available for treatment in such a scenario. As medical professionals, we are limited by the tools at our disposal.