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Inicio Medicina Clínica (English Edition) Novel therapeutics in hypertriglyceridaemia and chylomicronaemia
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Vol. 154. Issue 8.
Pages 308-314 (April 2020)
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Vol. 154. Issue 8.
Pages 308-314 (April 2020)
Review
Novel therapeutics in hypertriglyceridaemia and chylomicronaemia
Nuevos tratamientos en la hipertrigliceridemia y en la hiperquilomicronemia
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10
Juan de Dios García Díaz
Unidad de Genética Clínica y Lípidos, Servicio de Medicina Interna, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain
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Table 1. Genes responsible for familial hyperchylomicronaemia or monogenic severe hypertriglyceridemia; its heterozygous mutations contribute to polygenic hypertriglyceridemia.
Table 2. Mechanisms and pharmacological groups capable of reducing plasma triglycerides.
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Abstract

Currently there is evidence on hypertriglyceridaemia as an independent risk factor of atherosclerosis. Chylomicronaemia associated with very high concentration of triglycerides may cause severe and recurrent acute pancreatitis. The cause of most cases is a combination of a polygenetic basis with some lifestyles and pathological conditions. Some rare and familial chylomicronaemias are mendelian diseases with an autosomal recessive pattern. On the other hand, plasma triglycerides have considerable biological variability and usually descend with non-pharmacological interventions alone. In some cases, drugs are also required for their control, but their impact on vascular risk reduction or pancreatitis prevention is more controversial. The recent advances in knowledge of molecular lipid metabolism and pharmacological technologies are resulting in the development of new therapeutic strategies, which can be applied to patients with refractory hypertriglyceridaemia. The challenge may be how the health systems can cover its high costs.

Keywords:
Hypertriglyceridaemia
Chylomicronaemia
Genetic dyslipidaemia
Hyperlipidaemic pancreatitis
Lipid metabolism
Novel therapeutics
Monoclonal antibodies
Antisense oligonucleotides
Gene therapy
Resumen

Existen evidencias del papel de la hipertrigliceridemia como factor de riesgo independiente de ateromatosis. Cuando es severa, la hiperquilomicronemia puede asociarse a pancreatitis aguda grave y recurrente. En la mayoría de las hipertrigliceridemias se combina una base predisponente poligénica con diversos factores ambientales u otras patologías precipitantes. Algunas hiperquilomicronemias son formas familiares monogénicas autosómicas recesivas. Una característica de los triglicéridos plasmáticos es la marcada variabilidad y su descenso con ajustes en la dieta y el estilo de vida. Los fármacos disponibles contribuyen también a su control, pero es más controvertida la disminución del riesgo vascular o de pancreatitis. Los avances en el conocimiento del metabolismo lipídico a nivel molecular y en la tecnología farmacológica posibilitan el desarrollo de nuevas estrategias terapéuticas que pueden facilitar el tratamiento de pacientes en los que las medidas convencionales no son efectivas. En algunos casos, el elevado coste podría limitar su acceso y su sostenibilidad.

Palabras clave:
Hipertrigliceridemia
Hiperquilomicronemia
Dislipemia genética
Pancreatitis lipémica
Metabolismo lipídico
Nuevos tratamientos
Anticuerpos monoclonales
Oligonucleótidos antisentido
Terapia génica

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