| Revista: | Revista de investigación clínica |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000456906 |
| ISSN: | 0034-8376 |
| Autores: | Bello Chavolla, Omar Yaxmehen1 Kuri García, Anuar1 Ríos Ríos, Monserratte1 Vargas Vázquez, Arsenio1 Cortés Arroyo, Jorge Eduardo1 Tapia González, Gabriela1 Cruz Bautista, Ivette1 Aguilar Salinas, Carlos Alberto1 |
| Instituciones: | 1Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Unidad de Investigación en Enfermedades Metabólicas, Ciudad de México. México |
| Año: | 2018 |
| Volumen: | 70 |
| Número: | 5 |
| Paginación: | 224236-224236 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers. Controversies surrounding the relevance of identifying FCHL as a cause of isolated hypertriglyceridemia and a differential diagnosis of familial hypertriglyceridemia are offset by the description of associations with USF1 and other genetic traits that are unique for FCHL and that are shared with other conditions with similar pathophysiological mechanisms. Patients with FCHL are at an increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, non-alcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome. Management usually requires lipidlowering therapy directed toward reducing cholesterol and triglyceride concentrations along with cardiovascular risk protection. In recent years, the number of research studies on FCHL has been decreasing, mainly due to a lack of recognition of its impact on disease burden and comorbidity and the complexity in identifying probands for studies. This creates areas of opportunity to develop research for FCHL in epidemiology, genetics, pathophysiology, therapeutics, and cardiovascular risk management, which are discussed in depth in this review |
| Disciplinas: | Medicina |
| Palabras clave: | Metabolismo y nutrición, Genética, Dislipidemia, Hiperlipidemia familiar combinada, Factores genéticos, Apolipoproteína B |
| Keyword: | Metabolism and nutrition, Genetics, Dyslipidemia, Familial combined hyperlipidemia, Genetic factors, Apolipoprotein B |
| Texto completo: | https://www.medigraphic.com/pdfs/revinvcli/nn-2018/nn185d.pdf |
