Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela / Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela

Objetivo: Describir la frecuencia, los aspectos clínicos, bioquímicos y moleculares de la hipercolesterolemia familiar (HF) en sujetos que acuden a una unidad de endocrinología. Métodos: Estudio observacional, descriptivo en el que se evaluaron 3.140 sujetos que fueron atendidos en la Unidad de Endocrinología del Centro Médico Orinoco en Ciudad Bolívar, Venezuela, desde el 7 de enero del 2013 al 9 de diciembre del 2016. Los casos índice fueron seleccionados de acuerdo con los criterios de la Red de Clínicas de Lípidos de Holanda. Se midieron lípidos plasmáticos. El análisis molecular se realizó por medio de secuenciación de ADN de los genes LDLR y APOB. Resultados: De los 3.140 sujetos evaluados, 10 (0,32%) tuvieron características clínicas y bioquímicas compatibles con HF. Todos, excepto uno, eran de sexo femenino. Tres pacientes tuvieron antecedente familiar en primer grado de enfermedad coronaria prematura y ninguno antecedente personal de esta patología. Tres pacientes tuvieron obesidad, 3 hipertensión arterial y ninguno tuvo diabetes. Tres pacientes presentaban xantomas tendinosos y solo uno arco corneal. Los valores de c-LDL oscilaron entre 191 y 486mg/dl. Solo 2 recibían tratamiento con estatinas. En 4 pacientes se identificó la causa genética de la HF: 3 de ellos por mutaciones en el gen LDLR y uno por mutación en el exón 26 del gen APOB. Conclusión: Aproximadamente una de cada 300 personas que acuden a consulta en esta unidad de endocrinología presentan HF. Las mutaciones en el gen LDLR son las principales causantes de HF en este grupo de pacientes (AU)

Objective: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. Methods: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes. Results: Ten (0.32%) of the 3,140 study patients had clinical and biochemical characteristics consistent with FH. All but one were female. Three had first-degree relatives with prior premature coronary artery; and none had a personal history of this condition. Three patients were obese; three had high blood pressure; and no one suffered from diabetes. Three patients had a history of tendon xanthomas, and one of corneal arcus. LDL-C levels ranged from 191 to 486mg/dL. Two patients were on statin therapy. The genetic causes of FH were identified in four patients, and were LDLR gene mutations in three of them and an APOB gene mutation in exon 26 in the other. Conclusion: Approximately, one out of every 300 people attending this endocrinology unit in those four years had FH, and LDLR gene mutations were the most prevalent cause (AU)

Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela. / Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela.

OBJECTIVE: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes. RESULTS: Ten (0.32%) of the 3,140 study patients had clinical and biochemical characteristics consistent with FH. All but one were female. Three had first-degree relatives with prior premature coronary artery; and none had a personal history of this condition. Three patients were obese; three had high blood pressure; and no one suffered from diabetes. Three patients had a history of tendon xanthomas, and one of corneal arcus. LDL-C levels ranged from 191 to 486mg/dL. Two patients were on statin therapy. The genetic causes of FH were identified in four patients, and were LDLR gene mutations in three of them and an APOB gene mutation in exon 26 in the other. CONCLUSION: Approximately, one out of every 300 people attending this endocrinology unit in those four years had FH, and LDLR gene mutations were the most prevalent cause.