Use of PCSK9 inhibitor in a Mexican boy with compound heterozygous familial hypercholesterolemia: A case report
Por:
Ceballos-Macías J.J., Madriz-Prado R., Vázquez Cárdenas N.A., Aguilar-Salinas C., Tusié-Luna M.T., Flores-Real J.A., Ortega-Gutiérrez G., Vargas-Sánchez J., Lara-Sánchez C., Hernández-Moreno A.
Publicada:
1 ene 2020
Categoría:
Endocrinology, diabetes and metabolism
Resumen:
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. © Endocrine Society 2019.
Filiaciones:
Ceballos-Macías J.J.:
Servicio de Endocrinología, Unidad de Especialidades Médicas de la Secretaria de Defensa Nacional, Edo MX, C.P. 53960, Mexico
Madriz-Prado R.:
Servicio de Endocrinología, Unidad de Especialidades Médicas de la Secretaria de Defensa Nacional, Edo MX, C.P. 53960, Mexico
Vázquez Cárdenas N.A.:
Departamento de Genética, ICB, Universidad Autónoma de Guadalajara, JLS, C.P. 44670, Mexico
Aguilar-Salinas C.:
Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, CDMX, C.P. 14080, Mexico
Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, CDMX, C.P. 14080, Mexico
Tusié-Luna M.T.:
Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, CDMX, C.P. 14080, Mexico
Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, CDMX, C.P. 14080, Mexico
Flores-Real J.A.:
Servicio Endocrinología del Hospital Central Militar, CDMX, C.P. 11649, Mexico
Ortega-Gutiérrez G.:
Servicio Endocrinología del Hospital Central Militar, CDMX, C.P. 11649, Mexico
Vargas-Sánchez J.:
Servicio Endocrinología del Hospital Central Militar, CDMX, C.P. 11649, Mexico
Lara-Sánchez C.:
Servicio de Endocrinología, Unidad de Especialidades Médicas de la Secretaria de Defensa Nacional, Edo MX, C.P. 53960, Mexico
Hernández-Moreno A.:
Servicio Endocrinología del Hospital Central Militar, CDMX, C.P. 11649, Mexico
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